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Yu L, Yuan C, Wang K, Li J, Ma X. Recurrent desmoid tumors with ureteric fistula: a case report and literature review. Front Pediatr 2025; 13:1573732. [PMID: 40364816 PMCID: PMC12069339 DOI: 10.3389/fped.2025.1573732] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/09/2025] [Accepted: 04/11/2025] [Indexed: 05/15/2025] Open
Abstract
Background Desmoid tumors (DT) is a rare soft tissue tumor classified as a borderline neoplasm. It exhibits locally aggressive growth and is prone to postoperative recurrence. Case presentation We reported the first case of adolescent pelvic DT ureteral fistula, and report the patient's all progress of diagnosis and treatment. A recurrent pelvic DT in an adolescent female patient who initially underwent surgical resection but experienced recurrence, was effectively treated with sorafenib. Later, however, the patient's tumor changed from solid to cystic solid mixed, increasing in size, and the patient developed right hydronephrosis and hydroureter. Patients who underwent right sided antegrade pyelography were diagnosed with right sided ureteral desmoid tumor fistula and urinary fistula-related pseudocysts. Following treatment with right sided percutaneous nephrostomy, their condition improved, with resolution of right sided hydronephrosis and hydroureter, as well as partial shrinkage of the cystic component. Conclusion DT can rarely result in the development of DT-ureteral fistulas. For patients with DT responsive to medical therapy, physicians should closely monitor tumor progression and pay attention to its invasion of adjacent organs and potential complications. Physicians need to balance therapeutic efficacy and quality of life when making treatment strategies for young patients.
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Affiliation(s)
| | | | | | | | - Xue Ma
- West China Hospital, Sichuan University, Chengdu, China
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2
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Benjamin DJ, Lythgoe MP. Sexual health and reproductive toxicity from cancer therapies. Lancet Oncol 2025; 26:408-410. [PMID: 40179903 DOI: 10.1016/s1470-2045(24)00733-2] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/22/2024] [Revised: 12/05/2024] [Accepted: 12/18/2024] [Indexed: 04/05/2025]
Affiliation(s)
| | - Mark P Lythgoe
- Department of Surgery and Cancer, Imperial College, London, Hammersmith Hospital, London, UK
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Bahlouli N, Imrani K, Sara E, Chait F, Chaimae F, Nabil M, Nassar I, Samia S, Sabrine D, Zakia B, Amina BA, Youssef TO, Ismail L, Malki HOE, Lahcen I, Abdelkader B, Omar B. Mesenteric desmoid tumor in its cystic form: Case report of a very rare variant. Radiol Case Rep 2025; 20:980-988. [PMID: 39654563 PMCID: PMC11625238 DOI: 10.1016/j.radcr.2024.10.101] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/30/2024] [Revised: 10/15/2024] [Accepted: 10/16/2024] [Indexed: 12/12/2024] Open
Abstract
Desmoid tumors, also known as deep fibromatosis or desmoid-type fibromatosis, represent a rare subset of deep fibromatoses. It is a locally aggressive tumor, with no specific symptoms, and no metastatic potential. We report a case of a 38-year-old male patient with an abdominal mass. Radiological findings showed 2 tumors, the first was a solid inguinal mass of the left lateral iliac pedicle, and the second was a giant cystic mass in the abdominal cavity. An elective explorative laparotomy was performed to remove the 2 masses. Histopathological examination confirmed the desmoid tumor diagnosis of both lesions.
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Affiliation(s)
- Nourrelhouda Bahlouli
- Department of Radiology, Ibn Sina Hospital, Mohammed V University, Faculty of Medicine and Pharmacy, Rabat, Morocco
| | - Kaouthar Imrani
- Department of Radiology, Ibn Sina Hospital, Mohammed V University, Faculty of Medicine and Pharmacy, Rabat, Morocco
| | - Esseti Sara
- Department of Radiology, Ibn Sina Hospital, Mohammed V University, Faculty of Medicine and Pharmacy, Rabat, Morocco
| | - Fatima Chait
- Department of Radiology, Ibn Sina Hospital, Mohammed V University, Faculty of Medicine and Pharmacy, Rabat, Morocco
| | - Faraj Chaimae
- Department of Radiology, Ibn Sina Hospital, Mohammed V University, Faculty of Medicine and Pharmacy, Rabat, Morocco
| | - Moatassimbillah Nabil
- Department of Radiology, Ibn Sina Hospital, Mohammed V University, Faculty of Medicine and Pharmacy, Rabat, Morocco
| | - Ittimad Nassar
- Department of Radiology, Ibn Sina Hospital, Mohammed V University, Faculty of Medicine and Pharmacy, Rabat, Morocco
| | - Sassi Samia
- Department of Pathology, Ibn Sina Hospital, Mohammed V University, Faculty of Medicine and Pharmacy, Rabat, Morocco
| | - Derqaoui Sabrine
- Department of Pathology, Ibn Sina Hospital, Mohammed V University, Faculty of Medicine and Pharmacy, Rabat, Morocco
| | - Bernoussi Zakia
- Department of Pathology, Ibn Sina Hospital, Mohammed V University, Faculty of Medicine and Pharmacy, Rabat, Morocco
| | - Babana Alaoui Amina
- Department of Surgery « A », Ibn Sina Hospital, Mohammed V University, Faculty of Medicine and Pharmacy, Rabat, Morocco
| | - Touhami Ouazzani Youssef
- Department of Surgery « A », Ibn Sina Hospital, Mohammed V University, Faculty of Medicine and Pharmacy, Rabat, Morocco
| | - Lahjomri Ismail
- Department of Surgery « A », Ibn Sina Hospital, Mohammed V University, Faculty of Medicine and Pharmacy, Rabat, Morocco
| | - Hadj Omar El Malki
- Department of Surgery « A », Ibn Sina Hospital, Mohammed V University, Faculty of Medicine and Pharmacy, Rabat, Morocco
| | - Ifrine Lahcen
- Department of Surgery « A », Ibn Sina Hospital, Mohammed V University, Faculty of Medicine and Pharmacy, Rabat, Morocco
| | - Belkouchi Abdelkader
- Department of Surgery « A », Ibn Sina Hospital, Mohammed V University, Faculty of Medicine and Pharmacy, Rabat, Morocco
| | - Belkouchi Omar
- Department of Surgery « A », Ibn Sina Hospital, Mohammed V University, Faculty of Medicine and Pharmacy, Rabat, Morocco
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Limaiem F, Gharbi MA, Boujelbene N, Triki R, Romdhane KB, Bouzidi R. Desmoid-type fibromatosis in an uncommon location: A case report of shoulder involvement misdiagnosed as rhabdomyosarcoma. Int J Surg Case Rep 2024; 125:110508. [PMID: 39461132 PMCID: PMC11542472 DOI: 10.1016/j.ijscr.2024.110508] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/24/2024] [Revised: 10/19/2024] [Accepted: 10/21/2024] [Indexed: 10/29/2024] Open
Abstract
INTRODUCTION AND IMPORTANCE Desmoid-type fibromatosis is an uncommon tumor characterized by its local invasiveness, with shoulder involvement being notably infrequent. The optimal treatment strategy for this tumor remains a topic of ongoing debate. CASE PRESENTATION A 47-year-old Tunisian woman with a history of hypothyroidism, presented with pain and swelling in her left shoulder for a year. Examination revealed a firm, painful 4 cm mass, and MRI showed a poorly defined intramuscular tumor in the deltoid muscle, initially suspected to be rhabdomyosarcoma. However, surgical biopsy confirmed desmoid-type fibromatosis of the shoulder. The patient underwent surgical wide en-bloc resection of the tumor. The patient's recovery was uneventful, and she received physical therapy. At the three-year follow-up, she reported residual shoulder pain after heavy lifting, improving with analgesics. Examination showed no neurological deficits and a Constant score of 83 out of 100. CLINICAL DISCUSSION Due to their deep-seated nature and infiltrative growth patterns into neighboring subcutaneous tissues or muscles, along with the presence of myxoid or fibrotic components, desmoid-type fibromatosis can present challenges in distinguishing them from malignant soft tissue neoplasms based on imaging characteristics. CONCLUSIONS While radiologic evaluations may indicate characteristics suggestive of a malignant soft tissue tumor, histological confirmation is imperative prior to initiating surgical intervention. Continued research into the optimal treatment approaches for desmoid-type fibromatosis is essential for improving future patient outcomes and quality of life.
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Affiliation(s)
- Faten Limaiem
- University of Tunis El Manar, Tunis Faculty of Medicine, 1007, Tunisia; Pathology Department, Hospital Mongi Slim La Marsa, Tunisia.
| | - Mohamed Amine Gharbi
- University of Tunis El Manar, Tunis Faculty of Medicine, 1007, Tunisia; Department of Orthopedic Surgery, Hospital Mongi Slim La Marsa, Tunisia
| | - Nadia Boujelbene
- University of Tunis El Manar, Tunis Faculty of Medicine, 1007, Tunisia; Salah Azaïez Institute, Tunis, Tunisia
| | - Ramy Triki
- Department of Orthopedic Surgery, Hospital Mongi Slim La Marsa, Tunisia
| | | | - Ramzi Bouzidi
- University of Tunis El Manar, Tunis Faculty of Medicine, 1007, Tunisia; Department of Orthopedic Surgery, Hospital Mongi Slim La Marsa, Tunisia
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Shaikh R, Shashi KK, Shahin MM. Cryoablation in Extra-Abdominal Desmoid Tumors: A 10-Year Experience in Pediatric and Young Adult Patients. Cardiovasc Intervent Radiol 2024; 47:1776-1783. [PMID: 39237782 DOI: 10.1007/s00270-024-03845-3] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/09/2024] [Accepted: 08/17/2024] [Indexed: 09/07/2024]
Abstract
PURPOSE To determine the efficacy and safety of cryoablation in pediatric and young adult patients with desmoid tumors (DTs) retrospectively over a 10-year period. MATERIALS AND METHODS Twenty-one patients (age 2-22 years; median 14 years), with 21 desmoid tumors, underwent a total of 34 percutaneous cryoablation procedures between August 2013 and August 2023. All patients, excluding two, had surgical resection, chemotherapy, or a combination of these therapies with failed or suboptimal response. Clinical and imaging outcomes were analyzed for technical success, change in tumor volume, and recurrence of tumor, symptom improvement or recurrence, and procedure-related complications. RESULTS All procedures were technically successful. The median follow-up duration was 9 months (range, 3-32 months); total symptomatic improvement was achieved in 90% (19/21) patients, noticeable pain relief was seen in 100% (18/18) and 90% (9/10) patients had improved range of motion (ROM), discomfort resolved in 66.7% (2/3) patients. Of the treated tumors, 43% (9/21) showed greater than 75% tumor volume reduction of which 44% (4/9) had no evidence of viable residual tumor at follow-up, and 33% (7/21) had 50-75% volume reduction and 14% (3/21) had greater than 40-50% tumor volume reduction. According to modified response evaluation criteria in solid tumors (mRECIST), 71%( 15/21) had partial response (PR), 19% (4/21) had complete response (CR), and 10% (2/21) had stable disease. Four (12%) treatments were associated with minor complications, which self-resolved. CONCLUSION In this, predominantly pediatric patient cohort, cryoablation was effective and safe for the local control of extra-abdominal desmoid tumors in short-term follow-up.
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Affiliation(s)
- Raja Shaikh
- Department of Radiology, Boston Children's Hospital, 300 Longwood Ave, Boston, MA, 02115, USA.
| | - Kumar Kempegowda Shashi
- Department of Radiology, Arkansas Children's Hospital, 1 Children's Way, Little Rock, AR, 72202, USA
| | - Mohamed M Shahin
- Diagnostic and Interventional Imaging, The University of Texas Health Science Center, MSB2.130B, 6431 Fannin Street, Houston, TX, 77030, USA
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6
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Bartholomew AJ, Rhodin KE, Noteware L, Moris D, Kanu E, Masoud S, Howell TC, Burner D, Kim CY, Nussbaum DP, Zani S, Lidsky ME, Allen PJ, Riedel RF, Blazer DG. Evolution of Initial Treatment for Desmoid Tumors. Ann Surg Oncol 2024; 31:7943-7949. [PMID: 39133446 DOI: 10.1245/s10434-024-15938-x] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/13/2024] [Accepted: 07/16/2024] [Indexed: 08/13/2024]
Abstract
INTRODUCTION Desmoid tumors (DTs) are rare, fibroblastic cell proliferations that can exhibit locally aggressive behavior but lack metastatic potential. Initial management has traditionally involved upfront resection; however, contemporary guidelines and expert panels have increasingly advocated for prioritizing active surveillance strategies. METHODS A single-institution, retrospective chart review identified all patients diagnosed with a primary DT at any site from 2007 to 2020. The primary outcome was the initial management strategy over time. Secondary outcomes included treatment-free survival (TFS) and time to treatment (TTT) for those undergoing active surveillance, as well as recurrence-free survival (RFS) and time to recurrence for those undergoing resection. RESULTS Overall, 103 patients were included, with 68% female and a median follow-up of 44 months [24-74]. The most common tumor locations included the abdominal wall (27%), intra-abdominal/mesenteric (25%), chest wall (19%), and extremity (10%). Initial management included resection (60%), systemic therapy (20%), active surveillance (18%), and cryoablation (2%). Rates of surgical resection significantly decreased (p < 0.001) over time, from 69.6% prior to 2018 to 29.2% after 2018. For those treated with upfront resection, 5-year RFS was 41.2%, and for patients undergoing initial active surveillance, TFS was 66.7% at 2 years, with a median TTT of 4 months [4-10]. CONCLUSIONS This single-institution cohort at a tertiary medical center spanning over a decade demonstrates the transition to active surveillance for initial management of DTs, and highlights salient metrics in the era of surveillance. This trend mirrors recommended treatment strategies by expert panels and consensus guidelines.
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Affiliation(s)
- Alex J Bartholomew
- Department of Surgery, Duke University School of Medicine, Durham, NC, USA.
| | - Kristen E Rhodin
- Department of Surgery, Duke University School of Medicine, Durham, NC, USA
| | - Laura Noteware
- Department of Surgery, Duke University School of Medicine, Durham, NC, USA
| | - Dimitrios Moris
- Department of Surgery, Duke University School of Medicine, Durham, NC, USA
| | - Elishama Kanu
- Department of Surgery, Duke University School of Medicine, Durham, NC, USA
| | - Sabran Masoud
- Department of Surgery, Duke University School of Medicine, Durham, NC, USA
| | - T Clark Howell
- Department of Surgery, Duke University School of Medicine, Durham, NC, USA
| | - Danielle Burner
- Department of Surgery, Duke University School of Medicine, Durham, NC, USA
| | - Charles Y Kim
- Department of Radiology, Duke University School of Medicine, Durham, NC, USA
| | - Daniel P Nussbaum
- Department of Surgery, Duke University School of Medicine, Durham, NC, USA
| | - Sabino Zani
- Department of Surgery, Duke University School of Medicine, Durham, NC, USA
| | - Michael E Lidsky
- Department of Surgery, Duke University School of Medicine, Durham, NC, USA
| | - Peter J Allen
- Department of Surgery, Duke University School of Medicine, Durham, NC, USA
| | - Richard F Riedel
- Department of Medicine, Duke University School of Medicine, Durham, NC, USA
| | - Dan G Blazer
- Department of Surgery, Duke University School of Medicine, Durham, NC, USA
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Tuan NHN, Hai TD, Minh LN, Than TLH, Tu PD, Bao NVT, Van Khoa L, Dang TN, Van Phuoc L. Transarterial doxorubicin-eluting beads embolization for the treatment of desmoid fibromatosis in the pubic region. Radiol Case Rep 2024; 19:4335-4340. [PMID: 39170777 PMCID: PMC11338108 DOI: 10.1016/j.radcr.2024.06.086] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/09/2024] [Revised: 06/18/2024] [Accepted: 06/30/2024] [Indexed: 08/23/2024] Open
Abstract
Desmoid fibromatosis (DFs) is rare, low-grade neoplasm. Although it poses no risk of metastasis, DFs exhibits a range of clinical manifestations characterized by local infiltrative growth tendencies and a propensity for recurrence. Despite its nonmalignant nature, DFs can be highly debilitating and occasionally life-threatening, causing severe pain and functional limitations. Traditionally, surgery served as the conventional primary treatment approach; nevertheless, a recent shift in paradigm towards a more conservative management has emerged, accompanied by efforts to standardize the strategy among clinicians. Systemic doxorubicin has been demonstrated to be effective in treating DFs; however, it carries potential risks of adverse effects on the cardiovascular, digestive, and hematologic systems. The novel intravascular intervention employing drug-eluting beads loaded with doxorubicin represents an effective treatment for DFs, optimizing drug delivery to the target lesion and reducing systemic toxicity. In this article, we present a rare case of DFs in the right pubic region treated with transarterial doxorubicin-eluting beads embolization.
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Affiliation(s)
| | - Tran Duc Hai
- Department of radiology, Cho Ray Hospital, Ho Chi Minh City, Viet Nam
| | - Le Nhat Minh
- Department of radiology, Cho Ray Hospital, Ho Chi Minh City, Viet Nam
| | | | - Pham Dang Tu
- Department of radiology, Cho Ray Hospital, Ho Chi Minh City, Viet Nam
| | | | - Le Van Khoa
- Department of radiology, Cho Ray Hospital, Ho Chi Minh City, Viet Nam
| | - Thai Ngoc Dang
- Department of radiology, Cho Ray Hospital, Ho Chi Minh City, Viet Nam
| | - Le Van Phuoc
- Department of radiology, Cho Ray Hospital, Ho Chi Minh City, Viet Nam
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8
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Guo HP, Zhang H, Li Y, Pan XH, Sun CL, Zhang JJ. Desmoid tumors of rectus abdominis: A case report and literature review. Medicine (Baltimore) 2024; 103:e39089. [PMID: 39058871 PMCID: PMC11272252 DOI: 10.1097/md.0000000000039089] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/30/2024] [Accepted: 07/05/2024] [Indexed: 07/28/2024] Open
Abstract
RATIONALE Desmoid tumor (DT) is a rare soft tissue tumor that can occur anywhere in the body. Abdominal wall DT presents unique clinical challenges due to its distinctive manifestations, treatment modalities, and the lack of biomarkers for diagnosis and recurrence prediction, making clinical decisions exceedingly complex. PATIENT CONCERNS A 32-year-old female who underwent radical resection combined with patch reinforcement for rectus abdominis DT, successfully alleviating abdominal discomfort, with no recurrence during the 6-month follow-up after surgery. DIAGNOSES Based on the imaging studies and medical history, the patient underwent radical surgical resection. Histopathology reveals that the tumor cells predominantly composed of proliferative fibroblasts with local collagen deposition. The lesional cells show positive staining for β-catenin, indicating a diagnosis of DT. INTERVENTIONS The patient underwent radical surgical resection with patch reinforcement to repair the abdominal wall defect. Pathology confirmed negative margins, achieving an R0 resection, and genetic testing identified a T41A mutation in CTNNB1. Consequently, no additional adjuvant therapy was administered postoperatively. OUTCOMES The patient was discharged with the incision healing well after 3 days postoperation. Upon reexamination 6 months later, no recurrence or adverse complications were observed. LESSONS Abdominal wall DT treatment requires personalized plans from multidisciplinary team discussions. Genetic testing plays a crucial role in identifying novel biomarkers for abdominal wall DT. We have once again demonstrated the significant clinical significance of CTNNB1 mutations in the diagnosis and progression of abdominal wall DT. Additionally, genes such as CCND1, CYP3A4, SLIT1, RRM1, STIM1, ESR2, UGT1A1, among others, may also be closely associated with the progression of abdominal wall DT. Future research should delve deeper into and systematically evaluate the precise impact of these genetic mutations on treatment selection and prognosis for abdominal wall DT, in order to better guide patient management and treatment decisions.
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Affiliation(s)
- Hong-Peng Guo
- Department of General Surgery, Central Hospital of Shenyang Sujiatun, Shenyang, China
| | - He Zhang
- Department of Orthopedics Surgery, Central Hospital Affiliated to Shenyang Medical College, Shenyang, China
| | - You Li
- Department of General Surgery, Central Hospital Affiliated to Shenyang Medical College, Shenyang, China
| | - Xing-He Pan
- Department of General Surgery, Central Hospital Affiliated to Shenyang Medical College, Shenyang, China
| | - Cheng-Lin Sun
- Department of General Surgery, Central Hospital Affiliated to Shenyang Medical College, Shenyang, China
| | - Jun-Jie Zhang
- Department of Pathology, Central Hospital Affiliated to Shenyang Medical College, Shenyang, China
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Kangas-Dick A, Ali M, Poss M, Khoury T, Takabe K. Diagnosis and Management of Desmoid Fibromatosis of the Breast. World J Oncol 2024; 15:394-404. [PMID: 38751692 PMCID: PMC11092408 DOI: 10.14740/wjon1844] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/20/2024] [Accepted: 04/19/2024] [Indexed: 05/18/2024] Open
Abstract
Desmoid fibromatosis of the breast (also known as desmoid tumor of the breast) is a rare entity infrequently encountered by oncologists and surgeons caring for patients with breast disease. The current body of literature is highly reliant on case series and extrapolations from other sites of desmoid tumor-related disease. Much remains unclear regarding the pathological origins, natural history, and response to treatment of this condition. Traditional treatment strategies have centered on surgical resection, which may result in significantly disfiguring cosmetic and functional outcomes, frequent need for re-operation, and associated morbidity. There are limited data to support the superiority of upfront surgical resection when compared to medical therapy or watchful waiting strategies. Current treatment guidelines for desmoid tumors do not focus on the breast as a site of disease and are purposefully ambiguous due to the paucity of evidence available. We aim to review the literature concerning desmoid fibromatosis of the breast and propose an algorithm for current evidence-based management of this rare disease in the context of our experience with this pathology at a high-volume quaternary referral center.
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Affiliation(s)
- Aeryn Kangas-Dick
- Department of Surgical Oncology, Roswell Park Comprehensive Cancer Center, Buffalo, NY, USA
| | - Muhammad Ali
- Department of Pathology, Roswell Park Comprehensive Cancer Center, Buffalo, NY, USA
| | - Mariola Poss
- Department of Surgical Oncology, Roswell Park Comprehensive Cancer Center, Buffalo, NY, USA
| | - Thaer Khoury
- Department of Pathology, Roswell Park Comprehensive Cancer Center, Buffalo, NY, USA
| | - Kazuaki Takabe
- Department of Surgical Oncology, Roswell Park Comprehensive Cancer Center, Buffalo, NY, USA
- Department of Surgery, University at Buffalo Jacobs School of Medicine and Biomedical Sciences, the State University of New York, Buffalo, NY, USA
- Department of Breast Surgery and Oncology, Tokyo Medical University, Tokyo 160-8402, Japan
- Department of Gastroenterological Surgery, Yokohama City University School of Medicine, Yokohama 236-004, Japan
- Department of Surgery, Niigata University Graduate School of Medical and Dental Sciences, Niigata 951-8510, Japan
- Department of Breast Surgery, Fukushima Medical University, Fukushima, Japan
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Raad RA, Akers R, Al-Khudari S, Stenson K, Bhayani MK. A Nationwide Analysis of Head and Neck Fibromatoses. Laryngoscope 2024; 134:2228-2235. [PMID: 37933795 DOI: 10.1002/lary.31153] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/03/2023] [Revised: 09/25/2023] [Accepted: 10/11/2023] [Indexed: 11/08/2023]
Abstract
BACKGROUND Head and neck fibromatoses (HNFs) are a rare, diverse group of soft tissue tumors characterized by an abnormal proliferation of fibroblasts. Available literature on these tumors is limited to case reports and small single-institutional studies. OBJECTIVE We aim to provide demographic, socioeconomic, tumor-related, and treatment characteristics of HNFs. DESIGN Retrospective cohort analysis using the National Cancer Database (NCDB). METHODS The NCDB was queried for fibromatosis-related histologic codes located within the head and neck region. Various factors were analyzed. Univariate and multivariate survival analyses were performed. RESULTS Between 2004 and 2016, 130 patients were included in the analyses. Average age was 57.4 years old with a predominance of White (83.6%) males (61.5%). Non-desmoid HNFs accounted for 60%-70% of the tumors. The salivary gland was the most common location (38.5%) and more than half of the tumors were high grade. The majority were treated surgically (90.8%) and 25% had positive margins. Mean and median overall survival (OS) were 98.9 and 135.4 months, respectively. Surgery is associated with better OS than nonsurgical alternatives. Addition of adjuvant treatments was not associated with differences in survival. CONCLUSION In the largest study to date, we describe demographic, socioeconomic, tumor-related, and treatment patterns of patients with this rare disease. These tumors are most frequently present in middle-aged males with high-grade histology. Most are treated surgically and positive surgical margins are common. Surgery has better OS than nonsurgical alternatives. While adjuvant radiation has become more common, we found no difference in survival compared to surgery alone. LEVEL OF EVIDENCE 4 Laryngoscope, 134:2228-2235, 2024.
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Affiliation(s)
- Richard A Raad
- Department of Otorhinolaryngology - Head & Neck Surgery, Rush University Medical Center, Chicago, Illinois, U.S.A
| | - Rachel Akers
- Department of Otorhinolaryngology - Head & Neck Surgery, Rush University Medical Center, Chicago, Illinois, U.S.A
| | - Samer Al-Khudari
- Department of Otorhinolaryngology - Head & Neck Surgery, Rush University Medical Center, Chicago, Illinois, U.S.A
| | - Kerstin Stenson
- Department of Otorhinolaryngology - Head & Neck Surgery, Rush University Medical Center, Chicago, Illinois, U.S.A
| | - Mihir K Bhayani
- Department of Otorhinolaryngology - Head & Neck Surgery, Rush University Medical Center, Chicago, Illinois, U.S.A
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11
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Bajpai J, Munot P, Kota K, Gupta G, Gala K, Gulia A, Rekhi B, Khanna N, Shetty N, Bhargava P, Srinivas S, Ostwal V, Patil V, Noronha V, Kulkarni S, Laskar S, Prabhash K, Chinnaswamy G, Gupta S, Banavali S. Evaluation of Metronomic Therapy as a Low-Cost, Sustainable, Standard-of-Care Option in Desmoid Fibromatosis: Real-World Data From a Tertiary Care Center in India. JCO Glob Oncol 2024; 10:e2300308. [PMID: 38723218 DOI: 10.1200/go.23.00308] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/28/2023] [Revised: 11/13/2023] [Accepted: 01/29/2024] [Indexed: 04/03/2025] Open
Abstract
PURPOSE Desmoid fibromatosis (DF) is a locally aggressive tumor with low mortality but significant morbidity. There is a lack of standard of care, and existing therapies are associated with significant barriers including access, cost, and toxicities. This study aimed to explore the efficacy and safety of the metronomic therapy (MT) in DF in a large, homogenous cohort from India. PATIENTS AND METHODS This study involved histologically confirmed DF cases treated with MT comprising vinblastine (6 mg) and methotrexate (15 mg) both once a week, and tamoxifen (40 mg/m2) in two divided doses once daily between 2002 and 2018. RESULTS There were 315 patients with a median age of 27 years; the commonest site was extremity (142 of 315; 45.0%). There were 159 (50.1%) male patients. Of the 123 (39.0%) prior treated patients, 119 had surgery. Of 315 patients, 263 (83.5%) received treatment at our institute (MT-151, 77-local treatment, 9-tyrosine kinase inhibitor, and 26 were observed). Among the MT cohort (n = 163, 61.2%), at a median follow-up of 36 (0.5-186) months, the 3-year progression-free and overall survival were 81.1% (95% CI, 74.3 to 88.4) and 99.2% (95% CI, 97.6 to 100), respectively. There were 35% partial responses. Ninety-two patients (56.4%) completed 1-year therapy, which was an independent prognosticator (P < .0001; hazard ratio, 0.177 [95% CI, 0.083 to 0.377]). MT was well tolerated. Predominant grade ≥3 toxicities were febrile neutropenia, 12 (7.4%) without any chemotoxicity-related death. The annual cost of MT was $130 US dollars. CONCLUSION The novel, low-cost MT qualifies as one of the effective, less toxic, sustainable, standard-of-care options for the treatment of DF with global reach and merits wide recognition.
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Denwood H, Gonzalez MR, Sodhi A, Werenski J, Clunk M, Newman ET, Lozano-Calderón SA. Risk factors for local recurrence of upper extremity desmoid tumors. J Surg Oncol 2024; 129:813-819. [PMID: 38073165 DOI: 10.1002/jso.27559] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/11/2023] [Revised: 11/14/2023] [Accepted: 11/30/2023] [Indexed: 02/17/2024]
Abstract
INTRODUCTION Upper extremity (UE) desmoid tumors are locally aggressive neoplasms with high recurrence rates. Our study sought to analyze the demographics and treatment strategies of UE desmoid tumors and identify risk factors for recurrence. MATERIALS AND METHODS A retrospective review of 52 patients with histologically confirmed UE desmoid tumors treated at our institution between 1990 and 2015 was conducted. Survival was assessed using the Kaplan-Meier method and the Cox proportional hazards model was used for risk factor analysis. RESULTS For the entire cohort, median age was 40 (29-47) years, 75% were female, and 48% had local recurrence. The median tumor size was 45 (15-111) cm3 on imaging. Twenty-two patients had a previous resection. The most common treatments were surgery alone (50%) and surgery with adjuvant radiotherapy (21%). Tumor size ≥5 cm and tumor volume ≥40 cm3 on imaging were associated with increased recurrence (p = 0.006 and p = 0.005, respectively). Age and sex were not associated with local recurrence. Patients with a tumor size ≥5 cm were 2.6 times more likely to present with recurrence. At the 10-year mark, a lower local recurrence-free survival was seen in patients with tumors ≥5 cm (72.2% vs. 36.3%, p = 0.042) or ≥40 cm3 (67.2% vs. 32.7%, p = 0.034). CONCLUSION In our study, only tumor dimensions appeared to modify recurrence risk.
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Affiliation(s)
- Hayley Denwood
- Department of Orthopaedic Surgery, Harvard Medical School, Division of Orthopaedic Oncology, Massachusetts General Hospital, Boston, Massachusetts, USA
- Boston University Chobanian & Avedisian School of Medicine, Boston, Massachusetts, USA
| | - Marcos R Gonzalez
- Department of Orthopaedic Surgery, Harvard Medical School, Division of Orthopaedic Oncology, Massachusetts General Hospital, Boston, Massachusetts, USA
| | - Alisha Sodhi
- Department of Orthopaedic Surgery, Harvard Medical School, Division of Orthopaedic Oncology, Massachusetts General Hospital, Boston, Massachusetts, USA
| | - Joseph Werenski
- Department of Orthopaedic Surgery, Harvard Medical School, Division of Orthopaedic Oncology, Massachusetts General Hospital, Boston, Massachusetts, USA
| | - Marilee Clunk
- Department of Orthopaedic Surgery, Harvard Medical School, Division of Orthopaedic Oncology, Massachusetts General Hospital, Boston, Massachusetts, USA
- University of Toledo College of Medicine and Life Sciences Toledo, Toledo, Ohio, USA
| | - Erik T Newman
- Department of Orthopaedic Surgery, Harvard Medical School, Division of Orthopaedic Oncology, Massachusetts General Hospital, Boston, Massachusetts, USA
| | - Santiago A Lozano-Calderón
- Department of Orthopaedic Surgery, Harvard Medical School, Division of Orthopaedic Oncology, Massachusetts General Hospital, Boston, Massachusetts, USA
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Düx DM, Baal JD, Bitton R, Chen J, Brunsing RL, Sheth VR, Rosenberg J, Kim K, Ozhinsky E, Avedian R, Ganjoo K, Bucknor M, Dobrotwir A, Ghanouni P. MR-guided focused ultrasound therapy of extra-abdominal desmoid tumors: a multicenter retrospective study of 105 patients. Eur Radiol 2024; 34:1137-1145. [PMID: 37615768 DOI: 10.1007/s00330-023-10073-9] [Citation(s) in RCA: 2] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/23/2023] [Revised: 05/22/2023] [Accepted: 06/26/2023] [Indexed: 08/25/2023]
Abstract
OBJECTIVE To assess the safety and efficacy of magnetic resonance-guided focused ultrasound (MRgFUS) for the treatment extra-abdominal desmoids. METHODS A total of 105 patients with desmoid fibromatosis (79 females, 26 males; 35 ± 14 years) were treated with MRgFUS between 2011 and 2021 in three centers. Total and viable tumors were evaluated per patient at last follow-up after treatment. Response and progression-free survival (PFS) were assessed with (modified) response evaluation criteria in solid tumors (RECIST v.1.1 and mRECIST). Change in Numerical Rating Scale (NRS) pain and 36-item Short Form Health Survey (SF-36) scores were compared. Treatment-related adverse events were recorded. RESULTS The median initial tumor volume was 114 mL (IQR 314 mL). After MRgFUS, median total and viable tumor volume decreased to 51 mL (95% CI: 30-71 mL, n = 101, p < 0.0001) and 29 mL (95% CI: 17-57 mL, n = 88, p < 0.0001), respectively, at last follow-up (median: 15 months, 95% CI: 11-20 months). Based on total tumor measurements (RECIST), 86% (95% CI: 75-93%) had at least stable disease or better at last follow-up, but 50% (95% CI: 38-62%) of remaining viable nodules (mRECIST) progressed within the tumor. Median PFS was reached at 17 and 13 months for total and viable tumors, respectively. NRS decreased from 6 (IQR 3) to 3 (IQR 4) (p < 0.001). SF-36 scores improved (physical health (41 (IQR 15) to 46 (IQR 12); p = 0.05, and mental health (49 (IQR 17) to 53 (IQR 9); p = 0.02)). Complications occurred in 36%, most commonly 1st/2nd degree skin burns. CONCLUSION MRgFUS reduced tumor volume, reduced pain, and improved quality of life in this series of 105 patients with extra-abdominal desmoid fibromatosis. CLINICAL RELEVANCE STATEMENT Imaging-guided ablation is being increasingly used as an alternative to surgery, radiation, and medical therapy for the treatment of desmoid fibromatosis. MR-guided high-intensity focused ultrasound is an incisionless ablation technique that can be used to reduce tumor burden effectively and safely. KEY POINTS • Desmoid fibromatosis was treated with MR-guided high-intensity focused ultrasound in 105 patients. • MR-guided focused ultrasound ablation reduced tumor volume and pain and improved quality of life. • MR-guided focused ultrasound is a treatment option for patients with extra-abdominal desmoid tumors.
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Affiliation(s)
- Daniel M Düx
- Department of Radiology, Stanford University, Stanford, CA, USA.
| | - Joe Darryl Baal
- UCSF Department of Radiology & Biomedical Imaging, San Francisco, USA
| | - Rachelle Bitton
- Department of Radiology, Stanford University, Stanford, CA, USA
| | | | - Ryan L Brunsing
- Department of Radiology, Stanford University, Stanford, CA, USA
| | - Vipul R Sheth
- Department of Radiology, Stanford University, Stanford, CA, USA
| | | | - Kisoo Kim
- UCSF Department of Radiology & Biomedical Imaging, San Francisco, USA
| | - Eugene Ozhinsky
- UCSF Department of Radiology & Biomedical Imaging, San Francisco, USA
| | - Raffi Avedian
- Department of Orthopaedic Surgery, Stanford Medicine Outpatient Center, Redwood City, CA, USA
| | - Kristen Ganjoo
- Department of Medicine (Med/Oncology), Stanford Health Care, Stanford, CA, USA
| | - Matthew Bucknor
- UCSF Department of Radiology & Biomedical Imaging, San Francisco, USA
| | - Andrew Dobrotwir
- MR Focused Ultrasound Center, Future Medical Imaging Group, Victoria, Australia
| | - Pejman Ghanouni
- Department of Radiology, Stanford University, Stanford, CA, USA
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14
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Esperança-Martins M, Melo-Alvim C, Dâmaso S, Lopes-Brás R, Peniche T, Nogueira-Costa G, Abreu C, Luna Pais H, de Sousa RT, Torres S, Gallego-Paez LM, Martins M, Ribeiro L, Costa L. Breast Sarcomas, Phyllodes Tumors, and Desmoid Tumors: Turning the Magnifying Glass on Rare and Aggressive Entities. Cancers (Basel) 2023; 15:3933. [PMID: 37568749 PMCID: PMC10416994 DOI: 10.3390/cancers15153933] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/30/2023] [Revised: 07/27/2023] [Accepted: 07/28/2023] [Indexed: 08/13/2023] Open
Abstract
Breast sarcomas (BSs), phyllodes tumors (PTs), and desmoid tumors (DTs) are rare entities that arise from connective tissue. BSs can be classified as either primary or secondary, whether they develop de novo or after radiation exposure or lymphedema. PIK3CA seems to play an important common role in different BS. Malignant PTs show similar behavior to BSs, while DTs are locally aggressive but rarely metastasize. BSs usually present as unilateral, painless, rapidly growing masses with rare nodal involvement. The diagnosis should be based on magnetic resonance imaging and a core needle biopsy. Staging should comprise a chest computed tomography (CT) scan (except for benign PT and DT), while abdominal and pelvic CT scans and bone scans should be added in certain subtypes. The mainstay of treatment for localized BS is surgery, with margin goals that vary according to subtype. Radiotherapy and chemotherapy can be used as neoadjuvant or adjuvant approaches, but their use in these settings is not standard. Advanced BS should be treated with systemic therapy, consistent with recommendations for advanced soft tissue sarcomas of other topographies. Given the rarity and heterogeneity of these entities, multidisciplinary and multi-institutional collaboration and treatment at reference centers are critical.
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Affiliation(s)
- Miguel Esperança-Martins
- Medical Oncology Department, Centro Hospitalar Universitário Lisboa Norte, 1649-028 Lisboa, Portugal; (C.M.-A.); (S.D.); (R.L.-B.); (G.N.-C.); (C.A.); (H.L.P.); (R.T.d.S.); (S.T.); (L.R.)
- Luis Costa Lab, Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina da Universidade de Lisboa, 1649-028 Lisboa, Portugal; (T.P.); (L.M.G.-P.); (M.M.)
| | - Cecília Melo-Alvim
- Medical Oncology Department, Centro Hospitalar Universitário Lisboa Norte, 1649-028 Lisboa, Portugal; (C.M.-A.); (S.D.); (R.L.-B.); (G.N.-C.); (C.A.); (H.L.P.); (R.T.d.S.); (S.T.); (L.R.)
- Faculdade de Medicina da Universidade de Lisboa, 1649-028 Lisboa, Portugal
| | - Sara Dâmaso
- Medical Oncology Department, Centro Hospitalar Universitário Lisboa Norte, 1649-028 Lisboa, Portugal; (C.M.-A.); (S.D.); (R.L.-B.); (G.N.-C.); (C.A.); (H.L.P.); (R.T.d.S.); (S.T.); (L.R.)
| | - Raquel Lopes-Brás
- Medical Oncology Department, Centro Hospitalar Universitário Lisboa Norte, 1649-028 Lisboa, Portugal; (C.M.-A.); (S.D.); (R.L.-B.); (G.N.-C.); (C.A.); (H.L.P.); (R.T.d.S.); (S.T.); (L.R.)
| | - Tânia Peniche
- Luis Costa Lab, Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina da Universidade de Lisboa, 1649-028 Lisboa, Portugal; (T.P.); (L.M.G.-P.); (M.M.)
| | - Gonçalo Nogueira-Costa
- Medical Oncology Department, Centro Hospitalar Universitário Lisboa Norte, 1649-028 Lisboa, Portugal; (C.M.-A.); (S.D.); (R.L.-B.); (G.N.-C.); (C.A.); (H.L.P.); (R.T.d.S.); (S.T.); (L.R.)
- Faculdade de Medicina da Universidade de Lisboa, 1649-028 Lisboa, Portugal
| | - Catarina Abreu
- Medical Oncology Department, Centro Hospitalar Universitário Lisboa Norte, 1649-028 Lisboa, Portugal; (C.M.-A.); (S.D.); (R.L.-B.); (G.N.-C.); (C.A.); (H.L.P.); (R.T.d.S.); (S.T.); (L.R.)
- Faculdade de Medicina da Universidade de Lisboa, 1649-028 Lisboa, Portugal
| | - Helena Luna Pais
- Medical Oncology Department, Centro Hospitalar Universitário Lisboa Norte, 1649-028 Lisboa, Portugal; (C.M.-A.); (S.D.); (R.L.-B.); (G.N.-C.); (C.A.); (H.L.P.); (R.T.d.S.); (S.T.); (L.R.)
- Faculdade de Medicina da Universidade de Lisboa, 1649-028 Lisboa, Portugal
| | - Rita Teixeira de Sousa
- Medical Oncology Department, Centro Hospitalar Universitário Lisboa Norte, 1649-028 Lisboa, Portugal; (C.M.-A.); (S.D.); (R.L.-B.); (G.N.-C.); (C.A.); (H.L.P.); (R.T.d.S.); (S.T.); (L.R.)
- Faculdade de Medicina da Universidade de Lisboa, 1649-028 Lisboa, Portugal
| | - Sofia Torres
- Medical Oncology Department, Centro Hospitalar Universitário Lisboa Norte, 1649-028 Lisboa, Portugal; (C.M.-A.); (S.D.); (R.L.-B.); (G.N.-C.); (C.A.); (H.L.P.); (R.T.d.S.); (S.T.); (L.R.)
| | - Lina Marcela Gallego-Paez
- Luis Costa Lab, Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina da Universidade de Lisboa, 1649-028 Lisboa, Portugal; (T.P.); (L.M.G.-P.); (M.M.)
| | - Marta Martins
- Luis Costa Lab, Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina da Universidade de Lisboa, 1649-028 Lisboa, Portugal; (T.P.); (L.M.G.-P.); (M.M.)
| | - Leonor Ribeiro
- Medical Oncology Department, Centro Hospitalar Universitário Lisboa Norte, 1649-028 Lisboa, Portugal; (C.M.-A.); (S.D.); (R.L.-B.); (G.N.-C.); (C.A.); (H.L.P.); (R.T.d.S.); (S.T.); (L.R.)
- Faculdade de Medicina da Universidade de Lisboa, 1649-028 Lisboa, Portugal
| | - Luís Costa
- Medical Oncology Department, Centro Hospitalar Universitário Lisboa Norte, 1649-028 Lisboa, Portugal; (C.M.-A.); (S.D.); (R.L.-B.); (G.N.-C.); (C.A.); (H.L.P.); (R.T.d.S.); (S.T.); (L.R.)
- Luis Costa Lab, Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina da Universidade de Lisboa, 1649-028 Lisboa, Portugal; (T.P.); (L.M.G.-P.); (M.M.)
- Faculdade de Medicina da Universidade de Lisboa, 1649-028 Lisboa, Portugal
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15
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Kyun PJ, Kim DH, Choi CI, Kim KB, Park YM. Laparoscopic gastric wedge resection and spleen-preserving distal pancreatectomy performed on a 6-cm gastric desmoid tumour with pancreatic invasion. J Minim Access Surg 2023; 19:443-446. [PMID: 36695241 PMCID: PMC10449048 DOI: 10.4103/jmas.jmas_177_22] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/23/2022] [Revised: 08/21/2022] [Accepted: 09/27/2022] [Indexed: 01/22/2023] Open
Abstract
Desmoid tumours are rare tumours originating from fibroblasts, and are characterised by local infiltration and no metastasis. When complete resection is possible, surgical resection is considered a first-line treatment. In the case of large desmoid tumours, it is mainly performed by laparotomy, not laparoscopy. We report a case of a 43-year-old female patient presenting with a hypodense mass of approximately 5 cm in the posterior wall of the gastric antrum on computed tomography. There was no history of familial adenomatous polyposis, trauma or abdominal surgery. The patient underwent laparoscopic gastric wedge resection and spleen-preserving distal pancreatectomy without peri-operative complications. Pathological analysis revealed a desmoid tumour, which originated from the stomach and invaded the pancreas. Despite the large size and the locally infiltrative characteristics of these tumours, laparoscopic surgery can be an optimal treatment option due to its advantages.
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Affiliation(s)
- Park Jae Kyun
- Department of Surgery, College of Medicine, Pusan National University Hospital, Busan, Korea
| | - Dae Hwan Kim
- Department of Surgery, College of Medicine, Pusan National University Hospital, Busan, Korea
| | - Chang In Choi
- Department of Surgery, College of Medicine, Pusan National University Hospital, Busan, Korea
| | - Kyung Bin Kim
- Department of Pathology, College of Medicine, Pusan National University Hospital, Busan, Republic of Korea
| | - Young Mok Park
- Department of Surgery, College of Medicine, Pusan National University Hospital, Busan, Korea
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16
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Roland CL. Maintaining Health-related Quality of Life for Desmoid Tumor Patients: The Proof is in the Data. Ann Surg 2023; 277:884-885. [PMID: 36912036 DOI: 10.1097/sla.0000000000005845] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 03/14/2023]
Affiliation(s)
- Christina L Roland
- Department of Surgical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX
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17
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Bickels J, Gortzak Y, Sternheim A. 5-ALA Photodynamic Ablation of Fibroblsatic Sift-Tissues Tumors. Photodiagnosis Photodyn Ther 2023:103624. [PMID: 37217013 DOI: 10.1016/j.pdpdt.2023.103624] [Citation(s) in RCA: 3] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/18/2023] [Revised: 05/19/2023] [Accepted: 05/19/2023] [Indexed: 05/24/2023]
Abstract
BACKGROUND Fibroblastic soft-tissue tumors share enzymatic anomalies that result in excessive intracellular conversion of 5-aminolevulinic acid (5-ALA) to protoporphyrin IX, a photosensitizer which induces cellular apoptosis upon exposure to visible red light at a wavelength of 635 nm. We hypothesized that red light illumination of the surgical bed remaining after resection of fibroblastic tumors will result in destruction of microscopic tumor residua and may decrease the likelihood of local tumor recurrence. METHODS Twenty-four patients with desmoid tumors, solitary fibrous tumors (SFT), and dermatofibrosarcoma protuberans (DFSP) received oral 5-ALA prior to resection of their tumors. Following tumor resection, the exposed surgical bed was illuminated with red light at a wave length of 635 nm at a dose of 150J/cm2 for 33 minutes. RESULTS Treatment with 5-ALA was associated with minor side effects that included nausea and transient elevation of transaminases. Local tumor recurrence was detected in 1 of the 10 patients with desmoid tumors who had not undergone any previous surgery, none in the 6 patients who had SFT and 1 of the 5 patients who had DFSP. CONCLUSIONS 5-ALA photodynamic therapy of fibroblastic soft-tissue tumors may result in decreased likelihood of local tumor recurrence. It is associated with minimal side effects and should be considered as adjuvant to tumor resection in these cases.
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Affiliation(s)
- Jacob Bickels
- Unit of Orthopedic Oncology, Hillel-Yaffe Medical Center, Hadera, Israel, affiliated to the Rappaport Faculty of Medicine, Technion, Israel.
| | - Yair Gortzak
- National Unit of Orthopedic Oncology, Tel-Aviv Medical Center, affiliated to the Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel
| | - Amir Sternheim
- National Unit of Orthopedic Oncology, Tel-Aviv Medical Center, affiliated to the Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel
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18
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Meade A, Wisecarver I, Cho MJ, Davis JJ, Duque S, Farewell JT, Zhang AY. The Role of Reconstruction on Desmoid Tumor Recurrence: A Systematic Review and Technical Considerations. Ann Plast Surg 2023; 90:S195-S202. [PMID: 36729103 DOI: 10.1097/sap.0000000000003381] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/03/2023]
Abstract
BACKGROUND Desmoid tumors occur throughout the body, presenting as aggressive, locally invasive lesions that can impede quality of life. Many controversies remain regarding the optimal surgical treatment of desmoid. This article presents a systematic review and meta-analysis on surgical management, focusing on risk of recurrence and the utility of reconstruction within this unique patient population. METHODS A systematic review was conducted to search for articles. The clinical course of patients diagnosed with desmoid tumors and treated by our institution's multidisciplinary team was retrospectively reviewed over a 13-year period. Meta-analysis study findings were compared with our cohort. RESULTS From the systematic review, 10 studies with level of evidence III were found, which resulted in 981 patients. Twenty patients from our institution met the inclusion criteria for our study. In both our study cohort and the pooled results, recurrence was significantly higher in patients with positive microscopic margin after resection. In our study cohort, patients with recurrence had higher rates of positive margins compared with those without recurrence (83.3% vs 7.1%, P = 0.004), whereas the pooled study showed a difference of margin positivity of 50% vs 40% ( P = 0.01). No patients who underwent reconstruction in our study cohort had a recurrence during the study period. CONCLUSION In both our cohort and pooled results, recurrence was significantly higher in patients with positive margins after initial resection. Reconstruction was not found to be a risk factor for recurrence. Reconstruction following desmoid tumor resection should be considered a viable option if a large and aggressive resection is required to obtain negative margins.
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Affiliation(s)
- Anna Meade
- From the Department of Plastic Surgery, University of Texas Southwestern Medical Center, Dallas, TX
| | - Ian Wisecarver
- From the Department of Plastic Surgery, University of Texas Southwestern Medical Center, Dallas, TX
| | - Min-Jeong Cho
- Department of Plastic and Reconstructive Surgery, The Ohio State University College of Medicine, Columbus, OH
| | - Justin J Davis
- Institute for Plastic Surgery, Southern Illinois University, Springfield, IL
| | - Sofia Duque
- Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA
| | - Jordyn T Farewell
- From the Department of Plastic Surgery, University of Texas Southwestern Medical Center, Dallas, TX
| | - Andrew Y Zhang
- From the Department of Plastic Surgery, University of Texas Southwestern Medical Center, Dallas, TX
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El Charif MH, Tarhini H, Dushfunian D, Al Harake H, Khasawneh H, Abi Saad G, Khalife M, Sbaity E. Retroperitoneal desmoid-type fibromatosis: a case report. Ann Med Surg (Lond) 2023; 85:1258-1261. [PMID: 37113969 PMCID: PMC10129236 DOI: 10.1097/ms9.0000000000000491] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/01/2023] [Accepted: 03/18/2023] [Indexed: 04/29/2023] Open
Abstract
Desmoid-type fibromatosis (DF) is a rare subtype of soft tissue sarcomas that most commonly occurs in the anterior abdominal wall. When occurring in the retroperitoneum, DF is usually part of familial syndromes while only rarely sporadic. This makes it imperative to report any instance of experience with DF and the oncological outcomes of the different approaches to management. We report two cases of sporadic and severe DF occurring in the retroperitoneum at our institution. Case presentation The first case is a male that presented with urinary obstruction symptoms and underwent surgical resection of the tumor that extended into the left kidney. The second case is a female with a history of recurrent desmoid tumors of the thigh and was incidentally diagnosed with retroperitoneal DF on imaging. She underwent tumor resection and radiotherapy; however, the tumor recurred with urinary obstruction symptoms that required another surgical resection. Histopathological characteristics and radiological imaging of both cases are described below. Clinical discussion Desmoid tumors often recur, thus significantly influencing the quality of life which is reflected in one of our cases. Surgery remains a mainstay treatment, and both cases presented in this report required surgical resection of the tumors as symptomatic and curative measures. Conclusion Retroperitoneal DF is a rare entity, and our cases add to the scarce literature available on the topic, which may well contribute to the formulation of practice-changing recommendations and guidelines focused on this rare variant of DF.
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Affiliation(s)
| | | | | | | | - Hala Khasawneh
- Department of Radiology, American University of Beirut Medical Center, Beirut, Lebanon
| | | | | | - Eman Sbaity
- Department of Surgery
- Corresponding author. Address: Riad El Solh, Beirut 1107 2020, Lebanon. Tel.: +961 377 1917. E-mail address: (E. Sbaity)
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20
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Choudhury H, Abidoye O. A Desmoid Tumor Responding to Systemic Therapy With Tamoxifen and Sulindac. Cureus 2023; 15:e35723. [PMID: 37016646 PMCID: PMC10066902 DOI: 10.7759/cureus.35723] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 03/03/2023] [Indexed: 03/06/2023] Open
Abstract
Desmoid tumors are locally aggressive benign tumors arising from connective tissue and are classified as soft tissue sarcomas that do not metastasize. The name is derived from the Greek word desmos that means tendon-like. These tumors are also known as aggressive fibromatosis and have an unpredictable natural history that varies depending on risk factors. They are treated as sarcomas because of their locally aggressive nature and a high local recurrence rate. The causes behind desmoid tumor development are enigmatic and their clinical course is unpredictable. Disease progression also varies widely depending on multiple syndromic risk factors. At this time, there is no scientific consensus over best treatment practices for this tumor type. Treatment can potentially be a combination of observation, systemic therapy, surgery or radiation therapy. Here, we have described a case of a female patient with a sporadic desmoid tumor that successfully responded to tamoxifen and sulindac.
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21
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Lehnhardt M, Weskamp P, Sogorski A, Reinkemeier F, von Glinski M, Behr B, Harati K. [Aggressive Fibromatosis: Retrospective Analysis of 110 Patients]. HANDCHIR MIKROCHIR P 2023; 55:106-113. [PMID: 36758581 DOI: 10.1055/a-1948-2239] [Citation(s) in RCA: 2] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/11/2023] Open
Abstract
Aggressive fibromatosis, histologically classified as benign due to the absence of metastasis, is characterised by locally invasive and destructive growth with high recurrence rates after resection. For this reason, prognostic recurrence factors, in particular the extent of resection, are much debated, and treatment decisions seem challenging for interdisciplinary tumour conferences. Between the years 2000 and 2020, 110 patients with aggressive fibromatosis of the extremities or trunk received surgical treatment at BG University Hospital Bergmannsheil (Bochum, Germany). Univariate analyses were performed to detect any potential prognosis factors. The median follow-up time was 5.9 years. A total of 57 (51.8%) of these patients developed recurrence during this period. The 5-year recurrence-free survival was 52.9% (95% CI: 42.4-62.3) in the entire cohort. In R0-resected patients, the 5-year recurrence-free survival (RFS) was significantly better (p<0.001) at 69.2% compared with patients with R1 or R2-resected tumours (32.6%). Beyond that, no other significant influencing factors were identified. The results of this study indicate that R0 resection or R0 resectability were associated with a significantly better local control. The therapeutic recommendation for resection should be made individually by an interdisciplinary tumour board in due consideration of tumour progression, possible therapeutic alternatives, and foreseeable functional impairment.
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Affiliation(s)
- Marcus Lehnhardt
- Klinik für Plastische Chirurgie und Handchirurgie, Schwerbrandverletztenzentrum, Sarkomzentrum, BG-Universitätsklinikum Bergmannsheil Bochum, Bochum, Germany
| | - Pia Weskamp
- Klinik für Plastische Chirurgie und Handchirurgie, Schwerbrandverletztenzentrum, Sarkomzentrum, BG-Universitätsklinikum Bergmannsheil Bochum, Bochum, Germany
| | - Alexander Sogorski
- Klinik für Plastische Chirurgie und Handchirurgie, Schwerbrandverletztenzentrum, Sarkomzentrum, BG-Universitätsklinikum Bergmannsheil Bochum, Bochum, Germany
| | - Felix Reinkemeier
- Klinik für Plastische Chirurgie und Handchirurgie, Schwerbrandverletztenzentrum, Sarkomzentrum, BG-Universitätsklinikum Bergmannsheil Bochum, Bochum, Germany
| | - Maxi von Glinski
- Klinik für Plastische Chirurgie und Handchirurgie, Schwerbrandverletztenzentrum, Sarkomzentrum, BG-Universitätsklinikum Bergmannsheil Bochum, Bochum, Germany
| | - Björn Behr
- Klinik für Plastische Chirurgie und Handchirurgie, Schwerbrandverletztenzentrum, Sarkomzentrum, BG-Universitätsklinikum Bergmannsheil Bochum, Bochum, Germany
| | - Kamran Harati
- Klinik für Plastische Chirurgie und Handchirurgie, Schwerbrandverletztenzentrum, Sarkomzentrum, BG-Universitätsklinikum Bergmannsheil Bochum, Bochum, Germany
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22
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Wilke BK, Garner HW, Bestic JM, Chase LA, Heckman MG, Schoch JJ, Attia S. A Pilot Study of Intralesional Injection of Triamcinolone Acetonide for Desmoid Tumors: Two-Year Outcomes. Clin Cancer Res 2023; 29:541-547. [PMID: 36455003 DOI: 10.1158/1078-0432.ccr-22-2732] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/16/2022] [Revised: 10/22/2022] [Accepted: 11/29/2022] [Indexed: 12/03/2022]
Abstract
PURPOSE The purpose of this pilot study was to examine the clinical efficacy and safety of serial triamcinolone injections for the treatment of desmoid tumors. PATIENTS AND METHODS Nine patients were enrolled into this prospective study and underwent three serial ultrasound-guided triamcinolone injections (120 mg) at 6-week intervals. MRI was compared at baseline and every 6 months, out to 24 months. Safety and tolerability were assessed by clinical evaluation and questionnaires, including the 12-item short form survey (SF-12), visual analog scale (VAS), and desmoid patient-reported outcome (PRO) tool. RESULTS At 24 months, 8 (88.9%) patients demonstrated a reduction in the volume of their tumor while 1 (11.1%) enlarged. Median tumor volume change was -26.9% (-81.1% to 34.6%; P = 0.055) All 9 tumors remained stable based on World Health Organization criteria, whereas 2 (22.2%) demonstrated partial response based on RECIST. There was a significant decrease in the tumor:muscle postcontrast mean signal intensity ratio at 6 months (P = 0.008) and 24 months (P = 0.004). There was a similar decrease in the tumor:muscle T2 mean signal intensity ratio at 24 months (P = 0.02). We found no difference in the SF-12 and VAS scores, but there were significant improvements in the desmoid PRO. CONCLUSIONS Treatment of desmoid tumors with serial triamcinolone injections appears safe and well tolerated by patients, with a 22% partial response based on RECIST. Further research is needed to confirm our results and determine factors predictive of response.
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Affiliation(s)
- Benjamin K Wilke
- Department of Orthopedic Surgery, Mayo Clinic, Jacksonville, Florida
| | | | | | - Lori A Chase
- Department of Orthopedic Surgery, Mayo Clinic, Jacksonville, Florida
| | - Michael G Heckman
- Division of Clinical Trials and Biostatistics, Mayo Clinic, Jacksonville, Florida
| | - Jennifer J Schoch
- Department of Orthopedic Surgery, Mayo Clinic, Jacksonville, Florida
| | - Steven Attia
- Division of Medical Oncology, Mayo Clinic, Jacksonville, Florida
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23
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Figueredo C, Schiano T. A Review of the Clinical Presentation, Outcomes, and Treatments of Patients Having Desmoid Tumors. GASTRO HEP ADVANCES 2023; 2:588-600. [PMID: 39132032 PMCID: PMC11308132 DOI: 10.1016/j.gastha.2023.01.010] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 06/21/2022] [Accepted: 01/13/2023] [Indexed: 08/13/2024]
Abstract
Desmoid tumors (DTs) are deep fibroblastic neoplasms that arise from musculo-aponeurotic stromal elements. DTs may result in significant morbidity by infiltrating vital anatomic structures. Their mortality is often due to the local aggressiveness, most commonly when intra-abdominal in location. Some indolent DTs can be observed expectantly; infiltrative tumors require an aggressive and multidisciplinary approach and are offered conservative therapies such as nonsteroidal anti-inflammatory drugs or antiestrogens when surgery is not feasible. Comparably, chemotherapy is considered for those cases not amenable to surgery or radiation. Bowel resection and at times intestinal transplantation may be necessary. However, DTs may recur postsurgery making long-term management of these patients. Herein, we review the genetics, clinical presentations, outcomes, and treatments of DTs.
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Affiliation(s)
- Carlos Figueredo
- Department of Gastroenterology and Hepatology, Montefiore Medical Center/Albert Einstein College of Medicine, New York, New York
| | - Thomas Schiano
- Recanati-Miller Transplantation Institute, The Mount Sinai Medical Center, New York, New York
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24
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Management of Patients with Newly Diagnosed Desmoid Tumors in a First-Line Setting. Cancers (Basel) 2022; 14:cancers14163907. [PMID: 36010900 PMCID: PMC9405618 DOI: 10.3390/cancers14163907] [Citation(s) in RCA: 5] [Impact Index Per Article: 1.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/20/2022] [Revised: 08/09/2022] [Accepted: 08/11/2022] [Indexed: 11/16/2022] Open
Abstract
The initial management of desmoid tumors (DTs) is shifting from surgery towards active surveillance, with systemic and locally ablative treatments reserved for enlarging and/or symptomatic disease. However, it remains unclear which patients would benefit most from an initial conservative rather than interventional approach. To answer this question, we retrospectively analyzed adult and pediatric patients with DTs treated at a tertiary academic cancer center between 1992 and 2022. Outcomes measured were progression-free survival (PFS) and time to next treatment (TTNT) after first-line therapy. A total of 262 treatment-naïve patients were eligible for analysis with a median age of 36.5 years (range, 0−87 years). The 5-year PFS and the median TTNT (months) after first-line treatment were, respectively: 50.6% and 69.1 mo for surgery; 64.9% and 149.5 mo for surgery plus adjuvant radiotherapy; 57.1% and 44.7 mo for surgery plus adjuvant systemic therapy; 24.9% and 4.4 mo for chemotherapy; 26.7% and 5.3 mo for hormonal therapy; 41.3% and 29.6 mo for tyrosine kinase inhibitors (TKIs); 44.4% and 8.9 mo for cryoablation and high intensity focused ultrasound; and 43.1% and 32.7 mo for active surveillance. Age ≤ 40 years (p < 0.001), DTs involving the extremities (p < 0.001), a maximum tumor diameter > 60 mm (p = 0.04), and hormonal therapy (p = 0.03) predicted a higher risk of progression. Overall, our results suggest that active surveillance should be considered initially for patients with smaller asymptomatic DTs, while upfront TKIs, local ablation, and surgery achieve similar outcomes in those with more aggressive disease.
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25
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Riedel RF, Agulnik M. Evolving strategies for management of desmoid tumor. Cancer 2022; 128:3027-3040. [PMID: 35670122 PMCID: PMC9546183 DOI: 10.1002/cncr.34332] [Citation(s) in RCA: 35] [Impact Index Per Article: 11.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/01/2022] [Revised: 05/04/2022] [Accepted: 05/10/2022] [Indexed: 11/02/2022]
Abstract
Desmoid tumors (DTs) are rare soft tissue mesenchymal neoplasms that may be associated with impairments, disfigurement, morbidity, and (rarely) mortality. DT disease course can be unpredictable. Most DTs are sporadic, harboring somatic mutations in the gene that encodes for β-catenin, whereas DTs occurring in patients with familial adenomatous polyposis have germline mutations in the APC gene, which encodes for a protein regulator of β-catenin. Pathology review by an expert soft tissue pathologist is critical in making a diagnosis. Magnetic resonance imaging is preferred for most anatomic locations. Surgery, once the standard of care for initial treatment of DT, is associated with a significant risk of recurrence as well as avoidable morbidity because spontaneous regressions are known to occur without treatment. Consequently, active surveillance in conjunction with pain management is now recommended for most patients. Systemic medical treatment of DT has evolved beyond the use of hormone therapy, which is no longer routinely recommended. Current options for medical management include tyrosine kinase inhibitors as well as more conventional cytotoxic chemotherapy (e.g., anthracycline-based or methotrexate-based regimens). A newer class of agents, γ-secretase inhibitors, appears promising, including in patients who fail other therapies, but confirmation in Phase 3 trials is needed. In summary, DTs present challenges to physicians in diagnosis and prognosis, as well as in determining treatment initiation, type, duration, and sequence. Accordingly, evaluation by a multidisciplinary team with expertise in DT and patient-tailored management are essential. As management strategies continue to evolve, further studies will help clarify these issues and optimize outcomes for patients.
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Affiliation(s)
- Richard F Riedel
- Duke Cancer Institute, Duke University Medical Center, Durham, North Carolina, USA
| | - Mark Agulnik
- Medical Oncology and Therapeutics Research, City of Hope Comprehensive Cancer Center, Duarte, California, USA
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26
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Evola G, Scravaglieri M, Piazzese E, Evola FR, Di Fede GF, Piazza L. Misdiagnosed desmoid fibromatosis of the chest wall presenting in emergency like as recurrence of post-traumatic hematoma: A case report and review of the literature. Int J Surg Case Rep 2022; 94:107019. [PMID: 35439723 PMCID: PMC9026611 DOI: 10.1016/j.ijscr.2022.107019] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/02/2022] [Revised: 03/28/2022] [Accepted: 03/31/2022] [Indexed: 12/01/2022] Open
Abstract
INTRODUCTION AND IMPORTANCE Desmoid Fibromatosis (DF) represents a rare neoplasm developing from fascial and musculoaponeurotic structures. Preoperative diagnosis of DF is a challenge because of its rarity and nonspecific presentation. Imaging may be helpful for determining the correct diagnosis. Currently there are different clinical treatments of DF including surgical treatment, drug treatment and radiotherapy. CASE PRESENTATION A 43-year-old Caucasian male presented to the Emergency Department with a 6-month history of recurrence of post-traumatic chest wall hematoma. Physical examination revealed a partially solid, painless mass on the right anterior chest wall. Laboratory tests reported and neutrophilic leukocytosis. Thoracic contrast-enhanced computed tomography showed a smooth contour, heterogeneous and hypodense subcutaneous soft tissue mass anterior to the right pectoral muscles and to the right 4th-7th rib. The patient underwent surgery: a solid suprafascial neoplasm was completely excised. The postoperative course of the patient was uneventful. CLINICAL DISCUSSION DF is a soft tissue neoplasm with a tendency for local invasion and recurrence. The course of DF cannot be predicted, being fatal if DF infiltrates vital structures. Diagnosis of DF is difficult and imaging may be helpful for determining the correct diagnosis. Currently the treatment for DF has shifted from surgery (post-operative recurrence rates of 20%-70%) to conservative therapy including watchful waiting. CONCLUSION DF is a myofibroblastic proliferative soft tissue tumor and classified as an intermediate malignancy. Preoperative diagnosis of DF needs a high index of suspicion and is facilitated by imaging. Surgery, among different treatments, represents a potentially curative treatment of DF.
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Affiliation(s)
- Giuseppe Evola
- General and Emergency Surgery Department, Garibaldi Hospital, Piazza Santa Maria di Gesù 5, 95124 Catania, Italy.
| | - Mario Scravaglieri
- General and Emergency Surgery Department, Garibaldi Hospital, Piazza Santa Maria di Gesù 5, 95124 Catania, Italy
| | - Enrico Piazzese
- General and Emergency Surgery Department, Garibaldi Hospital, Piazza Santa Maria di Gesù 5, 95124 Catania, Italy
| | - Francesco Roberto Evola
- Department of Orthopedic and Traumatology, Cannizzaro Hospital, via Messina 829, 95126 Catania, Italy
| | - Giovanni Francesco Di Fede
- Department of Diagnostic Radiology, Neuroradiology and Interventional Radiology, Garibaldi Hospital, Piazza Santa Maria di Gesù 5, 95124 Catania, Italy
| | - Luigi Piazza
- General and Emergency Surgery Department, Garibaldi Hospital, Piazza Santa Maria di Gesù 5, 95124 Catania, Italy
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27
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Zhong X, Hu X, Zhao P, Wang Y, Fang XF, Shen J, Shen H, Yuan Y. The efficacy of low-power cumulative high-intensity focused ultrasound treatment for recurrent desmoid tumor. Cancer Med 2022; 11:2079-2084. [PMID: 35274811 PMCID: PMC9119350 DOI: 10.1002/cam4.4573] [Citation(s) in RCA: 7] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/18/2021] [Revised: 11/30/2021] [Accepted: 12/30/2021] [Indexed: 11/09/2022] Open
Abstract
Background Desmoid tumors are rare neoplasms that are locally invasive. However, optimal treatment strategies for recurrent desmoid tumors remain controversial. High‐intensity focused ultrasound (HIFU) has been reported as a noninvasive modality for treating recurrent desmoid tumors. However, its efficacy against massive desmoid tumors or those with complex anatomies remains unclear. Methods We developed a new therapeutic strategy called low‐power cumulative HIFU and applied it to treat recurrent desmoid tumors. Results We retrospectively collected data from 91 patients with recurrent desmoid tumors who underwent low‐power cumulative HIFU treatment after surgical treatment failure. The mean ablation proportion of the HIFU treatment was 69.5%, and the objective response rate was 47.3%. The 5‐year estimated progression‐free survival rate for these patients was 69.3%. Conclusion Low‐power cumulative HIFU treatment could achieve significant efficacy and long‐term control of recurrent desmoid tumors.
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Affiliation(s)
- Xian Zhong
- Department of Medical Oncology, Key Laboratory of Cancer Prevention and Intervention, National Ministry of Education, Key Laboratory of Molecular Biology in Medical Sciences, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China
| | - Xiaoye Hu
- Department of Medical Oncology, Key Laboratory of Cancer Prevention and Intervention, National Ministry of Education, Key Laboratory of Molecular Biology in Medical Sciences, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China
| | - Peng Zhao
- College of Metrology and Measurement Engineering, China Jiliang University, Hangzhou, China
| | - Yuebing Wang
- College of Metrology and Measurement Engineering, China Jiliang University, Hangzhou, China
| | - Xue Feng Fang
- Department of Medical Oncology, Key Laboratory of Cancer Prevention and Intervention, National Ministry of Education, Key Laboratory of Molecular Biology in Medical Sciences, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China
| | - Jiayi Shen
- Zhejiang University-University of Edinburgh (ZJU-UOE) Institute, Zhejiang University School of Medicine, Haining, China
| | - Hong Shen
- Department of Medical Oncology, Key Laboratory of Cancer Prevention and Intervention, National Ministry of Education, Key Laboratory of Molecular Biology in Medical Sciences, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China
| | - Ying Yuan
- Department of Medical Oncology, Key Laboratory of Cancer Prevention and Intervention, National Ministry of Education, Key Laboratory of Molecular Biology in Medical Sciences, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China
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28
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Michaelides A, Ang A, ChinAleong J, Kocher HM. Large desmoid tumour of the small bowel mesentery. BMJ Case Rep 2022; 15:e247935. [PMID: 35236693 PMCID: PMC8895928 DOI: 10.1136/bcr-2021-247935] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 02/09/2022] [Indexed: 11/09/2022] Open
Abstract
A 74-year-old man was being investigated for a pancreatic insulinoma when an incidental mesenteric mass measuring 2.6 cm x 2.5 cm was noticed on CT imaging. A wait-and-see approach was decided on. Thirty-nine months later, the patient presented with symptoms of abdominal obstruction. CT images revealed the mesenteric mass filled majority of the abdominal cavity and measured 29 cm x 26 cm x 16 cm. The patient underwent an open bypass gastrojejunostomy which stopped working a few weeks later due to further compression by the tumour. A debulking surgery was performed: a right hemicolectomy and small bowel resection with excision of the desmoid tumour and bypass gastrojejunostomy. The tumour measured 12.6 kg and was macroscopically visualised to have a white cut surface with a focal translucent area. Microscopic analysis revealed bland spindle cells with pale eosinophilic cytoplasm showing no cytological atypia, in keeping with a mesenteric desmoid tumour. Currently, two and a half years from the debulking surgery, the patient remains well and in remission with planned surveillance.
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Affiliation(s)
- Athena Michaelides
- HPB Surgery, Barts and the London HPB Centre, Barts Health NHS Trust, London, London, UK
| | - Andrew Ang
- HPB Surgery, Barts and the London HPB Centre, Barts Health NHS Trust, London, London, UK
| | - Joanne ChinAleong
- Department of Pathology, Centre for Tumour Biology, Barts Health NHS Trust, London, London, UK
| | - Hemant M Kocher
- HPB Surgery, Barts and the London HPB Centre, Barts Health NHS Trust, London, London, UK
- Barts Cancer Institute, Queen Mary University of London, London, London, UK
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29
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Mastoraki A, Schizas D, Vassiliu S, Saliaris K, Giagkos GC, Theochari M, Vergadis C, Tolia M, Vassiliu P, Felekouras E. Evaluation of diagnostic algorithm and therapeutic interventions for intra-abdominal desmoid tumors. Surg Oncol 2022; 41:101724. [DOI: 10.1016/j.suronc.2022.101724] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/20/2021] [Revised: 01/03/2022] [Accepted: 02/13/2022] [Indexed: 11/09/2022]
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30
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Hua H, He Z, Lei L, Xie H, Deng Z, Cheng Z, Zuo S, Sun C, Yu C. Retroperitoneal Spindle Cell Tumor: A Case Report. Front Surg 2022; 8:764901. [PMID: 34977142 PMCID: PMC8714648 DOI: 10.3389/fsurg.2021.764901] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/26/2021] [Accepted: 11/08/2021] [Indexed: 12/26/2022] Open
Abstract
Spindle cell tumor is very rare. Herein, we report a case of retroperitoneal spindle cell tumor in a 52-year-old female. The patient first presented with a complaint of persistent pain in the right upper abdomen. In the follow-up, a CT scan was performed and showed a retroperitoneal soft tissue density mass measuring 11 cm in diameter. Then, a subsequent operation was performed, and we completely removed the tumor and partially invaded lesions. The tumor was histologically diagnosed as a spindle cell tumor. Therefore, it is imperative for us to enhance the understanding of this seldom found tumor. Surgery remains the best option for treatment.
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Affiliation(s)
- Hao Hua
- Department of Hepatic-Biliary-Pancreatic Surgery, The Affiliate Hospital of Guizhou Medical University, Guiyang, China
| | - Zhiwei He
- Department of Hepatic-Biliary-Pancreatic Surgery, The Affiliate Hospital of Guizhou Medical University, Guiyang, China
| | - Linhan Lei
- Department of Hepatic-Biliary-Pancreatic Surgery, The Affiliate Hospital of Guizhou Medical University, Guiyang, China
| | - Huahua Xie
- Department of Hepatic-Biliary-Pancreatic Surgery, The Affiliate Hospital of Guizhou Medical University, Guiyang, China
| | - Zilei Deng
- Department of Hepatic-Biliary-Pancreatic Surgery, The Affiliate Hospital of Guizhou Medical University, Guiyang, China
| | - Zili Cheng
- Department of Hepatic-Biliary-Pancreatic Surgery, The Affiliate Hospital of Guizhou Medical University, Guiyang, China
| | - Shi Zuo
- Department of Hepatic-Biliary-Pancreatic Surgery, The Affiliate Hospital of Guizhou Medical University, Guiyang, China
| | - Chengyi Sun
- Department of Hepatic-Biliary-Pancreatic Surgery, The Affiliate Hospital of Guizhou Medical University, Guiyang, China
| | - Chao Yu
- Department of Hepatic-Biliary-Pancreatic Surgery, The Affiliate Hospital of Guizhou Medical University, Guiyang, China
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31
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Murase F, Nishida Y, Hamada S, Sakai T, Shimizu K, Ueda T. Trends in diagnostic and therapeutic strategies for extra-abdominal desmoid-type fibromatosis: Japanese musculoskeletal oncology group questionnaire survey. Jpn J Clin Oncol 2021; 51:1615-1621. [PMID: 34530455 DOI: 10.1093/jjco/hyab146] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/23/2021] [Accepted: 08/30/2021] [Indexed: 11/13/2022] Open
Abstract
OBJECTIVE The mainstay of treatment modality for extra-abdominal desmoid-type fibromatosis (DF) has shifted from surgery, which often impairs ADL/QOL, to conservative treatment including active surveillance. In the present study, we conducted a longitudinal survey on the diagnosis and treatment of DF at facilities belonging to the Japanese Musculoskeletal Oncology Group, which is a research group of facilities specializing in the treatment of bone and soft tissue tumors in Japan to clarify the transition of medical care for extra-abdominal DF. METHODS The same questionnaire was administered in 2015 and 2018, and responses were obtained from 46 (69%) of 67 facilities and 42 (53%) of 80 facilities in 2015 and 2018, respectively. RESULTS Although immunostaining for β-catenin was often used for the pathological diagnosis in both 2015 and 2018, CTNNB1 mutation analysis was not performed either in 2015 or in 2018. As for the treatment strategy for resectable cases, surgical treatment including wide resection was selected at 11 facilities (24% of respondents) in 2015, and further decreased to 5 facilities (12%) in 2018. Conservative treatment with active surveillance or medical treatment was the most common treatment for both resectable and difficult-to-resect cases. COX-2 inhibitors and tranilast were often used in the drug treatment of both resectable and difficult-to-resect cases. Few facilities provided radiotherapy, methotrexate and vinblastine, or DOX-based chemotherapy for refractory cases in both 2015 and 2018. CONCLUSIONS A good trend was found in the questionnaire survey. It will be further necessary to disseminate clinical practice guidelines to physicians more widely, and to have them understand and implement the most up-to-date medical practice strategies for this rare disease.
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Affiliation(s)
- Fuminori Murase
- Department of Orthopedics, Gifu Prefectural Tajimi Hospital, Tajimi, Gifu, Japan
| | - Yoshihiro Nishida
- Department of Rehabilitation Medicine, Nagoya University Hospital, Nagoya, Aichi, Japan.,Department of Orthopaedic Surgery, Nagoya University Hospital, Nagoya, Aichi, Japan
| | - Shunsuke Hamada
- Department of Orthopaedic Surgery, Aichi Cancer Center, Chikusa-ku Nagoya, Aichi, Japan
| | - Tomohisa Sakai
- Department of Orthopaedic Surgery, Nagoya University Hospital, Nagoya, Aichi, Japan
| | - Koki Shimizu
- Department of Orthopaedic Surgery, Nagoya Memorial Hospital, Tempaku, Nagoya, Japan
| | - Takafumi Ueda
- Department of Orthopaedic Surgery, Kodama Hospital, Takarazuka, Hyogo, Japan
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32
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Ishikawa Y, Umezawa R, Yamamoto T, Takahashi N, Takeda K, Suzuki Y, Jingu K. Successful treatment with radiation therapy for desmoid-type fibromatosis with unilateral hydronephrosis: a case report. J Med Case Rep 2021; 15:540. [PMID: 34702352 PMCID: PMC8549302 DOI: 10.1186/s13256-021-03088-7] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/13/2021] [Accepted: 08/31/2021] [Indexed: 11/10/2022] Open
Abstract
BACKGROUND Desmoid-type fibromatosis is a rare disease that can result in hydronephrosis. Hydronephrosis associated with desmoid-type fibromatosis often requires surgery or ureteral stent insertion. Although radiation therapy is recommended for inoperable cases of desmoid-type fibromatosis, there has been no report of treatment for hydronephrosis associated with desmoid-type fibromatosis by radiation therapy alone. We herein report a case of successful treatment for inoperable recurrence of desmoid-type fibromatosis with unilateral hydronephrosis by radiation therapy alone. CASE PRESENTATION A 43-year-old Japanese female underwent resection of desmoid-type fibromatosis in the right inguinal region and combined resection of the right external iliac vein 5 years before. Other treatment was not performed because of her pregnancy. Four years after surgery, desmoid-type fibromatosis recurred in the right pelvic wall. Cyclooxygenase-2 selective inhibitor treatment was given for 1 year, but her desmoid-type fibromatosis enlarged to more than 10 cm, and she had swelling of her right leg and hydronephrosis of her right kidney. The patient received 50.4 Gy in 28 fractions of prophylactic irradiation using 10 MV X-ray and 9 Gy in five fractions of a sequential boost for the recurrent desmoid-type fibromatosis. Although there was temporary tumor progression at 1 month after radiation therapy, slow regression of the tumor was seen. At 5 years after radiation therapy, there was no disease progression or severe complications. CONCLUSION We experienced successful treatment for an inoperable case of desmoid-type fibromatosis with hydronephrosis. Moderate-dose radiation therapy alone is an effective and feasible approach for the management of hydronephrosis associated with desmoid-type fibromatosis.
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Affiliation(s)
- Yojiro Ishikawa
- Department of Radiation Oncology, Tohoku University Graduate School of Medicine, 1-1 Seiryo-chou, Aoba-ku, Sendai, 980-8574, Japan.
| | - Rei Umezawa
- Department of Radiation Oncology, Tohoku University Graduate School of Medicine, 1-1 Seiryo-chou, Aoba-ku, Sendai, 980-8574, Japan
| | - Takaya Yamamoto
- Department of Radiation Oncology, Tohoku University Graduate School of Medicine, 1-1 Seiryo-chou, Aoba-ku, Sendai, 980-8574, Japan
| | - Noriyoshi Takahashi
- Department of Radiation Oncology, Tohoku University Graduate School of Medicine, 1-1 Seiryo-chou, Aoba-ku, Sendai, 980-8574, Japan
| | - Kazuya Takeda
- Department of Radiation Oncology, Tohoku University Graduate School of Medicine, 1-1 Seiryo-chou, Aoba-ku, Sendai, 980-8574, Japan
| | - Yu Suzuki
- Department of Radiation Oncology, Tohoku University Graduate School of Medicine, 1-1 Seiryo-chou, Aoba-ku, Sendai, 980-8574, Japan
| | - Keiichi Jingu
- Department of Radiation Oncology, Tohoku University Graduate School of Medicine, 1-1 Seiryo-chou, Aoba-ku, Sendai, 980-8574, Japan
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33
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Ujifuku K, Sadakata E, Baba S, Yoshida K, Kamada K, Morikawa M, Abe K, Suyama K, Nakazato Y, Shimokawa I, Matsuo T. Primary intracranial aggressive fibromatosis arising in sella turcica: illustrative case. JOURNAL OF NEUROSURGERY: CASE LESSONS 2021; 2:CASE21396. [PMID: 35855410 PMCID: PMC9265181 DOI: 10.3171/case21396] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 07/12/2021] [Accepted: 07/20/2021] [Indexed: 11/06/2022]
Abstract
BACKGROUND
Aggressive fibromatosis is a rare histologically benign but locally infiltrative myofibroblastic tumor. Primary intracranial aggressive fibromatosis (IAF) can exhibit a clinically malignant course.
OBSERVATIONS
A 22-year-old otherwise healthy woman presented with left painful ophthalmoplegia. Magnetic resonance imaging (MRI) revealed a left sellar tumor with cavernous sinus invasion. Endoscopic transsphenoidal surgery was performed. The lesion could not be totally resected. An inflammatory myofibroblastic tumor was suspected, so steroid pulse therapy was introduced, but it was ineffective. The tumor recurred after a few months, and she complained of visual acuity loss, abducens nerve palsy, trigeminal neuralgia, and panhypopituitarism. The lesion was diagnosed as primary IAF by a pathological review. Gamma Knife radiosurgery was performed, and chemotherapies were introduced but ineffective. Her consciousness was disturbed, and MRI showed hypothalamic invasion of the tumor, occlusion and stenosis of carotid arteries, and cerebral stroke. Palliative care was introduced, and she died 32 months after the onset. The autopsy revealed tumor invasion to the cavernous sinus, optic nerve, hypothalamus, pituitary, and tonsillar herniation due to massive cerebral stroke.
LESSONS
Radical resection can be impossible in patients with IAF. Radiotherapy and chemotherapy are not always effective for residual lesions. Adjuvant therapy for IAF remains to be explored.
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Affiliation(s)
- Kenta Ujifuku
- Department of Neurosurgery, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
| | - Eisakua Sadakata
- Department of Neurosurgery, Nagasaki University Hospital, Nagasaki, Japan
| | - Shiro Baba
- Department of Neurosurgery, Nagasaki University Hospital, Nagasaki, Japan
| | - Koichi Yoshida
- Department of Neurosurgery, Nagasaki University Hospital, Nagasaki, Japan
| | - Kensaku Kamada
- Department of Neurosurgery, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
| | - Minoru Morikawa
- Department of Radiology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
| | - Kuniko Abe
- Department of Pathology, Nagasaki University Hospital, Nagasaki, Japan
| | - Kazuhiko Suyama
- Department of Neurosurgery, Nagasaki University Hospital, Nagasaki, Japan
| | - Yoichi Nakazato
- Department of Human Pathology, Graduate School of Medicine, Gunma University, Gumma, Japan; and
| | - Isao Shimokawa
- Department of Pathology, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan
| | - Takayuki Matsuo
- Department of Neurosurgery, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
- Department of Neurosurgery, Nagasaki University Hospital, Nagasaki, Japan
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The Prognostic Role of β-Catenin Mutations in Desmoid-type Fibromatosis Undergoing Resection Only: A Meta-analysis of Individual Patient Data. Ann Surg 2021; 273:1094-1101. [PMID: 31804402 DOI: 10.1097/sla.0000000000003698] [Citation(s) in RCA: 20] [Impact Index Per Article: 5.0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/06/2023]
Abstract
OBJECTIVE This meta-analysis (PROSPERO CRD42018100653) uses individual patient data (IPD) to assess the association between recurrence and CTNNB1 mutation status in surgically treated adult desmoid-type fibromatosis (DTF) patients. SUMMARY OF BACKGROUND DATA The majority of sporadic DTF tumors harbor a CTNNB1 (ß-catenin) mutation: T41A, S45F, and S45P or are wild-type (WT). Results are conflicting regarding the recurrence risk after surgery for these mutation types. METHODS A systematic literature search was performed on June 6th, 2018. IPD from eligible studies was used to analyze differences in recurrence according to CTNNB1 mutation status using Cox proportional hazards analysis. Predictive factors included: sex, age, mutation type, tumor site, tumor size, resection margin status, and cohort. The PRISMA-IPD guideline was used. RESULTS Seven studies, describing retrospective cohorts were included and the IPD of 329 patients were used of whom 154 (46.8%) had a T41A mutation, 66 (20.1%) a S45F mutation, and 24 (7.3%) a S45P mutation, whereas 85 (25.8%) patients had a WT CTNNB1. Eighty-three patients (25.2%) experienced recurrence. Multivariable analysis, adjusting for sex, age, and tumor site yielded a P-value of 0.011 for CTNNB1 mutation. Additional adjustment for tumor size yielded a P-value of 0.082 with hazard ratio's of 0.83 [95% confidence interval (CI) 0.48-1.42), 0.37 (95% CI 0.12-1.14), and 0.44 (95% CI 0.21-0.92) for T41A, S45P and WT DTF tumors compared to S45F DTF tumors. The effect modification between tumor size and mutation type suggests that tumor size is an important mediator for recurrence. CONCLUSIONS Primary sporadic DTFs harboring a CTNNB1 S45F mutation have a higher risk of recurrence after surgery compared to T41A, S45P, and WT DTF, but this association seems to be mediated by tumor size.
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Ophir G, Sivan S, Hana S, Guy R, Nathan G, Naomi FI, Joseph K, Ido W, Ofer M, Yael G, Zohar L, Alona Z, Revital K. Abdominal Desmoid: Course, Severe Outcomes, and Unique Genetic Background in a Large Local Series. Cancers (Basel) 2021; 13:cancers13153673. [PMID: 34359575 PMCID: PMC8345061 DOI: 10.3390/cancers13153673] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/13/2021] [Revised: 07/16/2021] [Accepted: 07/18/2021] [Indexed: 01/01/2023] Open
Abstract
Simple Summary Abdominal desmoids are rare fibroblastic tumors. Though these tumors do not display metastatic potential, their locally aggressive nature can cause severe outcomes. Most cases appear sporadically, but 5–15% are associated with familial adenomatous polyposis (FAP) syndrome. Current consensus recommendations do not offer a standard sequence of therapy due to the lack of data for some treatment options. Here, we present an ongoing clinical experience with abdominal desmoids. The majority of our patients suffered severe outcomes such as need for surgery or major tumor complications. A small, but unique group of 16 non-FAP mesenteric desmoid was found to harbor genetic alterations in cancer associated genes other than APC, including CHEK2, BLM, ERCC5, MSH6, and PALB2. Abstract Introduction: Abdominal desmoid tumors are locally aggressive tumors that develop in familial adenomatous polyposis (FAP) patients, within the mesentery or abdominal wall. The understanding and implications of the treatment regimens are evolving. Aim: To assess the course, treatment, and outcomes of FAP and non-FAP abdominal desmoids and their related genetic alterations. Methods: Retrospective cohort study. Demographics, tumor characteristics, oncological and surgical history, complications, genetic-testing, and mortality data were retrieved from two tertiary referral centers. Results: Sixty-two patients were identified (46 FAP and 16 non-FAP). Thirty-eight patients (61.3%) underwent surgical procedures (12 urgent and 26 elective). Out of 33 tumor resections, 39.4% recurred. Hormonal therapy, COX-inhibitors, chemotherapy, imatinib, and sorafenib were used in 35 (56.4%), 30 (48.4%), 18 (29.1%), 7 (11.3%), and 8 (12.9%) of patients, respectively, with a 2 year progression-free survival of 67.8%, 57.7%, 38.4%, and 28.5%, respectively. Forty-one patients (66.1%) suffered complications: bowel obstruction (30.6%), hyperalimentation (14.5%), ureteral obstruction (12.9%), perforation (11.3%), abscess formation (3.2%), and spinal cord compression (3.2%). Non-FAP patients carried pathogenic mutations in CHEK2, BLM, ERCC5, MSH6, and PALB2. Conclusions: Abdominal desmoids are mostly FAP-related and are associated with severe outcomes. We also report a group of non-FAP abdominal desmoids, which includes patients with additional cancer-related gene alterations. This interesting group should be further explored.
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Affiliation(s)
- Gilad Ophir
- Tel-Aviv Medical Center, Department of Gastroenterology and Hepatology, Sackler Faculty of Medicine, Tel-Aviv University, Tel Aviv 6997801, Israel; (S.H.); (R.G.); (G.N.); (F.I.N.); (K.R.)
- Correspondence: ; Tel.: +972-36974280
| | - Shamai Sivan
- Tel-Aviv Medical Center, Institute of Oncology, Sackler Faculty of Medicine, Tel-Aviv University, Tel Aviv 6997801, Israel; (S.S.); (W.I.); (M.O.)
| | - Strul Hana
- Tel-Aviv Medical Center, Department of Gastroenterology and Hepatology, Sackler Faculty of Medicine, Tel-Aviv University, Tel Aviv 6997801, Israel; (S.H.); (R.G.); (G.N.); (F.I.N.); (K.R.)
| | - Rosner Guy
- Tel-Aviv Medical Center, Department of Gastroenterology and Hepatology, Sackler Faculty of Medicine, Tel-Aviv University, Tel Aviv 6997801, Israel; (S.H.); (R.G.); (G.N.); (F.I.N.); (K.R.)
| | - Gluck Nathan
- Tel-Aviv Medical Center, Department of Gastroenterology and Hepatology, Sackler Faculty of Medicine, Tel-Aviv University, Tel Aviv 6997801, Israel; (S.H.); (R.G.); (G.N.); (F.I.N.); (K.R.)
| | - Fliss Isakov Naomi
- Tel-Aviv Medical Center, Department of Gastroenterology and Hepatology, Sackler Faculty of Medicine, Tel-Aviv University, Tel Aviv 6997801, Israel; (S.H.); (R.G.); (G.N.); (F.I.N.); (K.R.)
| | - Klausner Joseph
- Tel-Aviv Medical Center, Department of Surgery, Sackler Faculty of Medicine, Tel-Aviv University, Tel Aviv 6997801, Israel;
| | - Wolf Ido
- Tel-Aviv Medical Center, Institute of Oncology, Sackler Faculty of Medicine, Tel-Aviv University, Tel Aviv 6997801, Israel; (S.S.); (W.I.); (M.O.)
| | - Merimsky Ofer
- Tel-Aviv Medical Center, Institute of Oncology, Sackler Faculty of Medicine, Tel-Aviv University, Tel Aviv 6997801, Israel; (S.S.); (W.I.); (M.O.)
| | - Goldberg Yael
- Rabin Medical Center, The Raphael Recanati Genetic Institute, Sackler Faculty of Medicine, Tel-Aviv University, Tel Aviv 6997801, Israel;
| | - Levi Zohar
- Rabin Medical Center, Department of Gastroenterology and Hepatology, Sackler Faculty of Medicine, Tel-Aviv University, Tel Aviv 6997801, Israel;
| | - Zer Alona
- Rabin Medical Center, Institute of Oncology, Sackler Faculty of Medicine, Tel-Aviv University, Tel Aviv 6997801, Israel;
| | - Kariv Revital
- Tel-Aviv Medical Center, Department of Gastroenterology and Hepatology, Sackler Faculty of Medicine, Tel-Aviv University, Tel Aviv 6997801, Israel; (S.H.); (R.G.); (G.N.); (F.I.N.); (K.R.)
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Aghighi M, Cloutier JM, Hoover WD, Roy K, Lo AA, Brown RA. Cutaneous desmoid-type fibromatosis: A rare case with molecular profiling. J Cutan Pathol 2021; 48:1185-1188. [PMID: 33978242 DOI: 10.1111/cup.14058] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/24/2021] [Revised: 04/28/2021] [Accepted: 05/05/2021] [Indexed: 11/26/2022]
Abstract
Fibromatoses encompass a broad group of histopathologically similar fibroblastic/myofibroblastic proliferations with divergent clinical manifestations and behavior. Deep (desmoid-type) fibromatoses are typically large, rapidly growing, and locally aggressive tumors that occur in the abdominal wall, mesentery, and extra-abdominal soft tissue, principally the musculature of the trunk and extremities. Most sporadic cases of desmoid fibromatosis harbor inactivating mutations in CTNNB1, the gene encoding beta-catenin. Tumors occurring in the context of familial adenomatous polyposis and Gardner syndrome bear inactivating mutations in APC. By contrast, mutations in CTNNB1 or APC have not been identified in cases of superficial fibromatosis. Cutaneous involvement by desmoid fibromatosis is exceedingly rare. Here we present a 78-year-old male with desmoid-type fibromatosis arising in the dermis of the right medial calf with a pathogenic mutation in CTNNB1 and a variant of unknown significance in APC.
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Affiliation(s)
- Maryam Aghighi
- Department of Pathology, Rutgers Health-St. Barnabas Medical Center, Livingston, New Jersey, USA
| | | | - William D Hoover
- Dermatology Group of the Carolinas, Concord, North Carolina, USA
| | - Katherine Roy
- Dermatology Group of the Carolinas, Concord, North Carolina, USA
| | - Amy A Lo
- Department of Pathology, Stanford Medicine, Stanford, California, USA
| | - Ryanne A Brown
- Department of Pathology, Stanford Medicine, Stanford, California, USA.,Department of Dermatology, Stanford University, Stanford, California, USA.,Pathology and Laboratory Service, Veterans Affairs Palo Alto Health Care System, Palo Alto, California, USA
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Cuomo P, Scoccianti G, Schiavo A, Tortolini V, Wigley C, Muratori F, Matera D, Kukushkina M, Funovics PT, Lingitz MT, Windhager R, Dijkstra S, Jasper J, Müller DA, Kaiser D, Perlaky T, Leithner A, Smolle MA, Campanacci DA. Extra-abdominal desmoid tumor fibromatosis: a multicenter EMSOS study. BMC Cancer 2021; 21:437. [PMID: 33879110 PMCID: PMC8059004 DOI: 10.1186/s12885-021-08189-6] [Citation(s) in RCA: 20] [Impact Index Per Article: 5.0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/10/2020] [Accepted: 04/12/2021] [Indexed: 11/29/2022] Open
Abstract
Background Extra-abdominal desmoid tumor fibromatosis (DTF) is a rare, locally aggressive soft tissue tumour. The best treatment modality for this patient cohort is still object of debate. Questions/purpose This paper aimed to (1) to compare the outcomes of DTF after different treatment modalities, (2) to assess prognostic factors for recurrence following surgical excision, and (3) to assess prognostic factors for progression during observation. Methods This was a retrospective multicenter study under the patronage of the European Musculoskeletal Oncology Society (EMSOS). All seven centres involved were tertiary referral centres for soft tissue tumours. Baseline demographic data was collected for all patients as well as data on the diagnosis, tumour characteristics, clinical features, treatment modalities and whether they had any predisposing factors for DTF. Results Three hundred eighty-eight patients (240 female, 140 male) with a mean age of 37.6 (±18.8 SD, range: 3–85) were included in the study. Two hundred fifty-seven patients (66%) underwent surgical excision of ADF, 70 patients (18%) were observed without therapy, the residual patients had different conservative treatments. There were no significant differences in terms of tumour recurrence or progression between the different treatment groups. After surgical excision, younger age, recurrent disease and larger tumour size were risk factors for recurrence, while tumours around the shoulder girdle and painful lesions were at risk of progression in the observational group. Conclusion Local recurrence rate after surgery was similar to progression rates under observation. Hence, observation in DTF seems to be justified, considering surgery in case of dimensional progression in 2 consecutive controls (3 and 6 months) and in painful lesions, with particular attention to lesions around the shoulder girdle.
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Affiliation(s)
- Pierluigi Cuomo
- Orthopaedic Oncology Department, Azienda Ospedaliero Universitaria Careggi, Florence, Italy. .,Sarcoma Unit, Royal National Orthopaedic Hospital, Stanmore, UK.
| | - Guido Scoccianti
- Orthopaedic Oncology Department, Azienda Ospedaliero Universitaria Careggi, Florence, Italy
| | - Alberto Schiavo
- Orthopaedic Oncology Department, Azienda Ospedaliero Universitaria Careggi, Florence, Italy
| | | | - Catrin Wigley
- Sarcoma Unit, Royal National Orthopaedic Hospital, Stanmore, UK
| | - Francesco Muratori
- Orthopaedic Oncology Department, Azienda Ospedaliero Universitaria Careggi, Florence, Italy
| | - Davide Matera
- Orthopaedic Oncology Department, Azienda Ospedaliero Universitaria Careggi, Florence, Italy
| | - Mariia Kukushkina
- Department of Skin and Soft Tissue Tumors, National Cancer Institute, Kiev, Ukraine
| | | | - Marie-Theres Lingitz
- Department of Orthopaedics and Trauma Surgery, Medical University of Vienna, Vienna, Austria
| | - Reinhard Windhager
- Department of Orthopaedics and Trauma Surgery, Medical University of Vienna, Vienna, Austria
| | - Sander Dijkstra
- Department of Orthopaedic Surgery, University of Leiden, Leiden, The Netherlands
| | - Jorrit Jasper
- Department of Orthopaedic Surgery, University of Leiden, Leiden, The Netherlands
| | | | | | - Tamás Perlaky
- Department of Orthopaedics, Semmelweis University, Budapest, Hungary
| | - Andreas Leithner
- Department of Orthopaedics and Trauma, Medical University of Graz, Graz, Austria
| | - Maria Anna Smolle
- Department of Orthopaedics and Trauma, Medical University of Graz, Graz, Austria
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Abstract
OPINION STATEMENT Desmoid tumors have a variable clinical course that ranges from indolence or spontaneous regression to an aggressive pattern marked by local invasion. Up to half may remain stable or regress; watchful waiting is the preferred approach in the initial management of desmoid tumors. Symptomatic or progressive tumors or those that may affect adjacent critical structures require surgery, radiotherapy, or systemic therapy. Although radiotherapy effectively controls desmoid tumors in most cases, concerns regarding late toxicity exist. Definitive radiotherapy for macroscopic disease is indicated when a non-morbid complete surgical resection cannot be accomplished and provides similar control rates to surgery plus radiotherapy but avoids toxicity from combined-modality treatment (surgery and radiotherapy). Adjuvant radiotherapy can be considered for microscopically involved margins, particularly for recurrent cases or when a future recurrence may be challenging to treat. Large size, extremity site, and younger age are poor prognostic factors after radiotherapy. In the extremity, radiotherapy may have superior outcomes to surgery. Younger patients, especially children, are challenging to manage as they are at particular risk for late toxicity due to the number of potential years at risk. For patients under 20 years old, for whom a non-morbid complete resection is not possible, we recommend systemic therapy as the first line of treatment. Although the long-term efficacy of systemic therapy is unproven, this strategy allows additional time for growth and development prior to radiotherapy. In younger patients and those with axial desmoid tumors adjacent to critical organs, consideration should be given to using proton therapy as the dosimetric advantages may mitigate some of the toxicity associated with conventional radiotherapy.
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Li GZ, Raut CP, Hunt KK, Feng M, Chugh R. Breast Sarcomas, Phyllodes Tumors, and Desmoid Tumors: Epidemiology, Diagnosis, Staging, and Histology-Specific Management Considerations. Am Soc Clin Oncol Educ Book 2021; 41:390-404. [PMID: 34010054 DOI: 10.1200/edbk_321341] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/20/2022]
Abstract
Breast sarcomas arise from connective tissues of the breast and account for fewer than 1% of all breast malignancies. They can be subclassified as primary breast sarcomas, which arise de novo and are histologically diverse, and secondary breast sarcomas, which arise as a result of radiation or lymphedema and are most commonly angiosarcomas. Two other connective tissue neoplasms that occur within the breast include phyllodes tumors and desmoid tumors, which exhibit a spectrum of behaviors. Malignant phyllodes tumors are biologically similar to primary breast sarcomas, whereas desmoid tumors are technically benign but often locally aggressive. Patients with breast sarcomas often present with a rapidly growing mass or, in cases of radiation-associated angiosarcoma, violaceous cutaneous lesions. Core needle biopsy is generally required to confirm the diagnosis of sarcomas. Staging workup includes MRI and chest imaging, although these are not required in the case of benign phyllodes or desmoid tumors. In general, localized breast sarcomas should be resected, with the extent of resection tailored to histologic subtype. Radiation and chemotherapy can be used in the neoadjuvant or adjuvant setting, but data are limited, so treatment decisions should be made on an individualized basis. Systemic therapy options for metastatic disease and refractory breast desmoids mimic those used for the same histologies when present in other sites. Given the rarity and heterogeneity of breast sarcoma, as well as limited literature describing these entities, expert multidisciplinary evaluation is crucial for optimal decision making.
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Affiliation(s)
- George Z Li
- Department of Surgery, Brigham and Women's Hospital and Harvard Medical School, Boston, MA
| | - Chandrajit P Raut
- Department of Surgery, Brigham and Women's Hospital and Harvard Medical School, Boston, MA.,Center for Sarcoma and Bone Oncology, Dana-Farber Cancer Institute, Boston, MA
| | - Kelly K Hunt
- Department of Breast Surgical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX
| | - Mary Feng
- Department of Radiation Oncology, University of California San Francisco, San Francisco, CA
| | - Rashmi Chugh
- Division of Hematology/Oncology, Department of Internal Medicine, University of Michigan, Ann Arbor, MI
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Sawada T, Mizumoto M, Oshiro Y, Numajiri H, Shimizu S, Hiroshima Y, Nakamura M, Iizumi T, Okumura T, Sakurai H. Long-term follow up of a patient with a recurrent desmoid tumor that was successfully treated with proton beam therapy: A case report and literature review. Clin Transl Radiat Oncol 2021; 27:32-35. [PMID: 33392400 PMCID: PMC7773558 DOI: 10.1016/j.ctro.2020.12.004] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/30/2020] [Revised: 12/13/2020] [Accepted: 12/14/2020] [Indexed: 02/06/2023] Open
Abstract
Desmoid tumors are benign, but may have a locally invasive tendency that commonly results in local recurrence. Most occur on the body trunk or extremities, whereas a head and neck desmoid tumor is relatively rare. The efficacy of radiotherapy has been suggested and 50-60 Gy is used for unresectable or recurrent desmoid tumors, but there are few reports of use of particle beam therapy. However, since this tumor occurs more often in younger patients compared to malignant tumors and the prognosis is favorable, there may be an advantage of this therapy. We treated a male patient with a head and neck recurrent desmoid tumor with proton beam therapy (PBT) at a dose of 60 Gy (RBE). This patient underwent surgical resection as initial treatment, but the tumor recurred only six months after surgery, and resection was performed again. After PBT, the tumor gradually shrank and complete remission has been achieved for 10 years without any severe late toxicity. Here, we report the details of this case, with a review of the literature. We suggest that PBT may reduce the incidence of second malignant tumors by reducing the dose exposure around the planning target volume.
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Affiliation(s)
- Takuya Sawada
- Department of Radiation Oncology, Proton Medical Research Center, University of Tsukuba Hospital, Tsukuba, Ibaraki, Japan
| | - Masashi Mizumoto
- Department of Radiation Oncology, Proton Medical Research Center, University of Tsukuba Hospital, Tsukuba, Ibaraki, Japan
| | - Yoshiko Oshiro
- Department of Radiation Oncology, Proton Medical Research Center, University of Tsukuba Hospital, Tsukuba, Ibaraki, Japan
- Department of Radiation Oncology, Tsukuba Medical Center Hospital, Tsukuba, Ibaraki, Japan
| | - Haruko Numajiri
- Department of Radiation Oncology, Proton Medical Research Center, University of Tsukuba Hospital, Tsukuba, Ibaraki, Japan
| | - Shosei Shimizu
- Department of Radiation Oncology, Proton Medical Research Center, University of Tsukuba Hospital, Tsukuba, Ibaraki, Japan
| | - Yuichi Hiroshima
- Department of Radiation Oncology, Proton Medical Research Center, University of Tsukuba Hospital, Tsukuba, Ibaraki, Japan
| | - Masatoshi Nakamura
- Department of Radiation Oncology, Proton Medical Research Center, University of Tsukuba Hospital, Tsukuba, Ibaraki, Japan
| | - Takashi Iizumi
- Department of Radiation Oncology, Proton Medical Research Center, University of Tsukuba Hospital, Tsukuba, Ibaraki, Japan
| | - Toshiyuki Okumura
- Department of Radiation Oncology, Proton Medical Research Center, University of Tsukuba Hospital, Tsukuba, Ibaraki, Japan
| | - Hideyuki Sakurai
- Department of Radiation Oncology, Proton Medical Research Center, University of Tsukuba Hospital, Tsukuba, Ibaraki, Japan
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Mei J, Hu Y, Jiang X, Zhong W, Tan C, Gu R, Liu F, Yang Y, Wang H, Shen S, Gong C. Ultrasound-Guided Vacuum-assisted Biopsy Versus Surgical Resection in Patients With Breast Desmoid Tumor. J Surg Res 2021; 261:400-406. [PMID: 33493893 DOI: 10.1016/j.jss.2020.12.049] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/15/2020] [Revised: 12/10/2020] [Accepted: 12/21/2020] [Indexed: 10/22/2022]
Abstract
BACKGROUND Recent studies suggest that desmoid tumors can be managed more conservatively rather than undergoing wide surgical resection (SR). Ultrasound-guided vacuum-assisted biopsy (UGVAB) is a minimally invasive technique. This retrospective study aimed to compare the outcome in patients with breast desmoid tumor (BDT) who received UGVAB alone versus SR. MATERIALS AND METHODS The pathology database was searched for patients diagnosed with BDT ≤ 3 cm from 2007 to 2019. All patients underwent breast ultrasound examination and were then performed UGVAB alone or local SR. The Kaplan-Meier method with a log-rank test was used as a univariate analysis to compare the relapse-free survival (RFS) rates between UGVAB and SR groups. Cox regression analysis was used for multivariate analysis. RESULTS A total of 39 patients were included. The median follow-up was 41 mo (range, 5-110 mo). The incidence of tumor recurrence was 23.1% (9/39). The 3-y cumulative RFS was 83.1% and 95.8% in the UGVAB and SR group, respectively, which was not significantly different between the two groups (P = 0.131, log-rank test). Multivariate analysis also revealed that treatment strategy (UGVAB versus SR) was not associated with an increased risk of relapse events (P = 0.274). CONCLUSIONS Small desmoid tumors (≤3 cm) after UGVAB alone did not have a significantly compromised RFS compared with those who underwent SR. UGVAB may be an alternative and relatively conservative method for the diagnosis and local control of BDT with a smaller size. A prospective, randomized study with large sample size is needed to confirm this observation.
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Affiliation(s)
- Jingsi Mei
- Guangdong Provincial Key Laboratory of Malignant Tumor Epigenetics and Gene Regulation, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, Guangdong, China; Breast Tumor Center, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, Guangdong, China
| | - Yue Hu
- Guangdong Provincial Key Laboratory of Malignant Tumor Epigenetics and Gene Regulation, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, Guangdong, China; Breast Tumor Center, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, Guangdong, China
| | - Xiaofang Jiang
- Guangdong Provincial Key Laboratory of Malignant Tumor Epigenetics and Gene Regulation, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, Guangdong, China; Breast Tumor Center, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, Guangdong, China
| | - Wenjing Zhong
- Guangdong Provincial Key Laboratory of Malignant Tumor Epigenetics and Gene Regulation, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, Guangdong, China; Breast Tumor Center, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, Guangdong, China
| | - Cui Tan
- Guangdong Provincial Key Laboratory of Malignant Tumor Epigenetics and Gene Regulation, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, Guangdong, China; Department of Pathology, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, Guangdong, China
| | - Ran Gu
- Guangdong Provincial Key Laboratory of Malignant Tumor Epigenetics and Gene Regulation, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, Guangdong, China; Breast Tumor Center, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, Guangdong, China
| | - Fengtao Liu
- Guangdong Provincial Key Laboratory of Malignant Tumor Epigenetics and Gene Regulation, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, Guangdong, China; Breast Tumor Center, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, Guangdong, China
| | - Yaping Yang
- Guangdong Provincial Key Laboratory of Malignant Tumor Epigenetics and Gene Regulation, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, Guangdong, China; Breast Tumor Center, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, Guangdong, China
| | - Hongli Wang
- Guangdong Provincial Key Laboratory of Malignant Tumor Epigenetics and Gene Regulation, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, Guangdong, China; Breast Tumor Center, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, Guangdong, China
| | - Shiyu Shen
- Guangdong Provincial Key Laboratory of Malignant Tumor Epigenetics and Gene Regulation, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, Guangdong, China; Breast Tumor Center, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, Guangdong, China
| | - Chang Gong
- Guangdong Provincial Key Laboratory of Malignant Tumor Epigenetics and Gene Regulation, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, Guangdong, China; Breast Tumor Center, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, Guangdong, China; Bioland Laboratory (Guangzhou Regenerative Medicine and Health Guangdong Laboratory), 510005 Guangzhou, China.
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Resection and postoperative radiation therapy for desmoid fibromatosis of the chest wall in a young woman. Surg Case Rep 2021; 7:28. [PMID: 33471222 PMCID: PMC7817733 DOI: 10.1186/s40792-020-01006-5] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/25/2020] [Accepted: 09/19/2020] [Indexed: 11/12/2022] Open
Abstract
Background Surgery is an effective treatment for desmoid fibromatosis, but it may be difficult, depending on the location or local spread of the tumor, and the decision to perform surgery must be made carefully. We herein report a case of desmoid fibromatosis of the chest wall in a young woman suspected of having invasion to the 1st, 2nd and 3rd ribs. Case presentation A 35-year-old woman had been aware of dry cough and right chest pain, so she was referred to our hospital. Chest computed tomography showed a localized pleural tumor mainly at the first rib. Magnetic resonance imaging revealed a 75 × 65 × 27-mm tumor with a smooth surface, with partial contact from the first rib to third rib and partial extension to the 1st intercostal space. The tumor showed growth in the two months after the first visit, so resection was performed. The tumor was completely resected, and adjuvant radiation therapy (50 Gy) was performed for the small margin. The pathological diagnosis was desmoid fibromatosis. The postoperative course has been uneventful, without recurrence at 14 months after surgery. Conclusions In chest wall tumors located ventral of the pulmonary apex, we suggest that a combination of the Grunenwald method and Masaoka anterior approach may be a useful option. In cases where margin is not enough, adjuvant radiation therapy should be considered.
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Zhang Z, Shi J, Yang T, Liu T, Zhang K. Management of aggressive fibromatosis. Oncol Lett 2021; 21:43. [PMID: 33262835 PMCID: PMC7693298 DOI: 10.3892/ol.2020.12304] [Citation(s) in RCA: 6] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/30/2020] [Accepted: 10/30/2020] [Indexed: 01/12/2023] Open
Abstract
Aggressive fibromatosis or desmoid tumor is a rare disease resulting from fibroblasts which do not metastasize. However, desmoid tumors belong to low-grade malignant tumors since they have high potential to infiltrate surrounding tissues, causing high local recurrence rates and may affect surrounding organs, threatening life quality and expectancy. Although surgery, watch and wait, radiotherapy, chemotherapy, high intensity focused ultrasound, ablation techniques or several agents have all been frequently investigated for the treatment of this type of disease, none are deemed as standard therapy for high recurrence rates that have been supported by any data. The present review retrieved literature on treatment options for desmoids to summarize the latest treatment modalities and refine their efficacy, as well as their side effects, in order to provide a more comprehensive treatment reference for clinicians.
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Affiliation(s)
- Zhijun Zhang
- Department of Colorectal and Anal Surgery, The Second Hospital of Jilin University, Changchun, Jilin 130012, P.R. China
| | - Jian Shi
- Department of Colorectal and Anal Surgery, The Second Hospital of Jilin University, Changchun, Jilin 130012, P.R. China
| | - Tao Yang
- Department of Colorectal and Anal Surgery, The Second Hospital of Jilin University, Changchun, Jilin 130012, P.R. China
| | - Tongjun Liu
- Department of Colorectal and Anal Surgery, The Second Hospital of Jilin University, Changchun, Jilin 130012, P.R. China
| | - Kai Zhang
- Department of Colorectal and Anal Surgery, The Second Hospital of Jilin University, Changchun, Jilin 130012, P.R. China
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Dürr HR, Wirth L, Baur-Melnyk A, Knösel T, Roeder F, Jansson V, Klein A. Desmoid Tumors of the Foot: A Retrospective Study of Four Patients. J Am Podiatr Med Assoc 2020; 110:449527. [PMID: 33301582 DOI: 10.7547/19-042] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/03/2023]
Abstract
BACKGROUND Desmoid-type fibromatosis (DF) is an aggressive (myo)fibroblastic neoplasm with an infiltrative growth pattern and a tendency for local recurrence. It is rarely seen at the foot. The aim of this retrospective study was to analyze clinical presentation, therapy, and outcomes in a consecutive series of four patients with DF at the foot. METHODS From 1994 to 2014, four patients had been surgically treated. The resection margin was marginal or even intralesional in all. One patient already had local recurrence at first presentation. The end point was either local recurrence or progression of residual disease. RESULTS The mean patient age was 27 years. In one patient, marginal excision healed the disease. In another patient, local recurrence after marginal resection necessitated distal phalanx amputation. Two other patients showed stable disease after either adjuvant radiotherapy or treatment with nonsteroidal anti-inflammatory drugs and tamoxifen. CONCLUSIONS If surgery is necessary, operative margins are less important than keeping function for the patient. Radiotherapy might be an option to avoid major amputation. The role of adjuvant radiotherapy is controversially discussed. A watchful wait-and-see policy seems to be justified by the published data but may be difficult for DF at the foot.
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Lucke-Wold B, Samaka RM, Refaat BF, Zwayed ARH. Desmoplastic Fibroma of the Skull in an Infant: A Case Report. NEUROLOGICAL SCIENCES AND NEUROSURGERY 2020; 1:108. [PMID: 33103158 PMCID: PMC7581284 DOI: 10.47275/2692-093x-108] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 02/05/2023]
Abstract
Desmoplastic fibromas are rare benign bone tumors occurring primarily in long bones and mandible. In this case report, we present a desmoplastic fibroma originating from the left frontal bone. This is an exceptionally rare presentation of this pathology and the associated imaging and pathologic slides are highly educational. We discuss the relevance to the literature and how to manage these patients clinically.
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Rosa F, Martinetti C, Piscopo F, Buccicardi D, Schettini D, Neumaier CE, Gandolfo N, Grazioli L, Gastaldo A. Multimodality imaging features of desmoid tumors: a head-to-toe spectrum. Insights Imaging 2020; 11:103. [PMID: 32986198 PMCID: PMC7520866 DOI: 10.1186/s13244-020-00908-0] [Citation(s) in RCA: 30] [Impact Index Per Article: 6.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/27/2020] [Accepted: 09/03/2020] [Indexed: 12/11/2022] Open
Abstract
Desmoid tumors (DTs) are a rare and biologically heterogeneous group of locally aggressive fibroblastic neoplasm: their biological behavior spectrum ranges from indolent to aggressive tumors. DTs are classified as intra-abdominal, extra-abdominal, and within the abdominal wall lesions.It is well known that abdominal and extra-abdominal DTs are associated with familial adenomatous polyposis (FAP) and Gardner syndrome. Possible risk factors are prior trauma/surgery, pregnancy, and oral contraceptives.There was a real revolution in the management of DT: from aggressive first-line approach (surgery and radiation therapy) to a more conservative one (systemic treatment and "wait-and-see policy").In these clinical settings, radiologists play an important role for assessing lesion resectability, evaluating recurrence, monitoring the biological behavior if an expectant management is chosen, and assessing response to systemic treatment as well as to radiation therapy.Awareness of common locations, risk factors, and imaging features is fundamental for a correct diagnosis and an adequate patient management.
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Affiliation(s)
- F Rosa
- Diagnostic Imaging Department, San Paolo Hospital-ASL 2, via Genova, 30, Savona, Italy.
| | - C Martinetti
- Department of Health Sciences (DISSAL), University of Genova, via A. Pastore 1, 16132, Genova, Italy
| | - F Piscopo
- Diagnostic Imaging Department, San Paolo Hospital-ASL 2, via Genova, 30, Savona, Italy
| | - D Buccicardi
- Diagnostic Imaging Department, San Paolo Hospital-ASL 2, via Genova, 30, Savona, Italy
| | - D Schettini
- Diagnostic Imaging Department, Villa Scassi Hospital-ASL 3, Corso Scassi 1, Genova, Italy
| | - C E Neumaier
- Diagnostic Imaging and Senology Unit, Policlinico San Martino, Largo R. Benzi 10, 16132, Genova, Italy
| | - N Gandolfo
- Diagnostic Imaging Department, Villa Scassi Hospital-ASL 3, Corso Scassi 1, Genova, Italy
| | - L Grazioli
- ASST "Spedali Civili", P.le Spedali Civili 1, 25123, Brescia, Italy
| | - A Gastaldo
- Diagnostic Imaging Department, San Paolo Hospital-ASL 2, via Genova, 30, Savona, Italy
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Desmoid-type fibromatosis of the lower extremity: A unique case of complete lesion resolution following core needle biopsy. Clin Imaging 2020; 69:213-218. [PMID: 32920469 DOI: 10.1016/j.clinimag.2020.08.030] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/20/2020] [Revised: 08/19/2020] [Accepted: 08/28/2020] [Indexed: 11/22/2022]
Abstract
Desmoid-type fibromatosis (DF) is a rare neoplasm characterized by fibroblastic and myofibroblastic proliferation. While characterized as a benign lesion that does not metastasize, desmoid-type fibromatosis exhibits a wide range of behavior from aggressive local tissue invasion and post-surgical recurrence to spontaneous regression. Tumor regression can occur following systemic medical therapy or rarely may occur in the absence of therapy. We present a case of a 50-year-old female with a left thigh vastus medialis intramuscular mass which underwent imaging work-up and subsequent core needle ultrasound-guided biopsy showing results of desmoid-type fibromatosis. Following biopsy, the tumor showed prompt, complete regression with complete MRI resolution 2 months following biopsy. The patient showed no evidence of disease recurrence out to one year on MRI surveillance. This case report will discuss desmoid-type fibromatosis imaging features, treatment strategies, spectrum of disease behavior, and atypical behavior such as the spontaneous tumor regression as seen in this case report. To our knowledge there have been no reported cases of DF spontaneous regression 2 months following a core needle biopsy. Understanding the variable behavior of desmoid-type fibromatosis can assist the radiologist in guiding management of these lesions with the goal of optimizing clinical outcomes and preventing unnecessary aggressive treatments for stable or regressing disease.
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Sakai T, Hamada S, Koike H, Shimizu K, Yoshida M, Nishida Y. Is mutation analysis of β-catenin useful for the diagnosis of desmoid-type fibromatosis? A systematic review. Jpn J Clin Oncol 2020; 50:1037-1042. [PMID: 32533146 DOI: 10.1093/jjco/hyaa080] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/10/2020] [Accepted: 05/13/2020] [Indexed: 11/13/2022] Open
Abstract
BACKGROUND An accurate diagnosis is crucial to determine the treatment modality for desmoid-type fibromatosis, although the histopathological diagnosis is occasionally difficult to make. Many desmoid-type fibromatosis have been reported to have hotspot mutation of β-catenin gene (CTNNB1). In the present study, we performed a systematic review to verify the usefulness of CTNNB1 mutation analysis in the diagnosis of desmoid-type fibromatosis. METHODS A literature search from January 1990 to August 2017 was conducted. Three reviewers independently assessed and screened the literature for eligibility and determined the final articles to be evaluated. Data regarding the sensitivity, specificity, accuracy and usefulness of CTNNB1 mutation analysis in the diagnosis of desmoid-type fibromatosis were recorded. We rated each report according to the Grading of Recommendations Development and Evaluation approach. RESULTS The search yielded 90 studies, seven of which were included after the first and second screenings. The positive rate of CTNNB1 mutation in desmoid-type fibromatosis was 86.8%, but the cohort of six of the seven reports was already diagnosed histopathologically as desmoid-type fibromatosis. Therefore, the usefulness of CTNNB1 mutation analysis in a cohort that is difficult to diagnose histopathologically is not clear in this review. Nevertheless, CTNNB1 mutation showed very high specificity in desmoid-type fibromatosis, indicating the usefulness of CTNNB1 mutation analysis in its diagnosis in combination with histological examination. CONCLUSION Because the lack of data precludes any useful comparison with histological diagnosis, the evidence level is low. However, considering its specificity, CTNNB1 mutation analysis may be useful in cases in which the histopathological diagnosis is difficult.
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Affiliation(s)
- Tomohisa Sakai
- Department of Orthopedic Surgery, Nagoya University Graduate School of Medicine, Nagoya, Japan
| | - Shunsuke Hamada
- Department of Orthopedic Surgery, Aichi Cancer Center Hospital, Nagoya, Japan
| | - Hiroshi Koike
- Department of Orthopedic Surgery, Nagoya University Graduate School of Medicine, Nagoya, Japan
| | - Koki Shimizu
- Department of Orthopedic Surgery, Tonokosei Hospital, Gifu, Japan
| | - Masahiro Yoshida
- Department of Hemodialysis and Surgery, Ichikawa Hospital, International University of Health and Welfare, Chiba, Japan.,Department of EBM and Guidelines, Japan Council for Quality Health Care, Tokyo, Japan
| | - Yoshihiro Nishida
- Department of Orthopedic Surgery, Nagoya University Graduate School of Medicine, Nagoya, Japan.,Department of Rehabilitation, Nagoya University Hospital, Nagoya, Japan
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Radiotherapy in desmoid fibromatosis: a 10-year experience from a tertiary care centre. JOURNAL OF RADIOTHERAPY IN PRACTICE 2020. [DOI: 10.1017/s1460396919000682] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/06/2022]
Abstract
AbstractAim of the study:To assess the relapse-free survival (RFS) and the factors influencing local recurrence in patients with desmoid fibromatosis (DF) treated at our centre and to determine the role of post-operative radiotherapy (RT) in improving local control.Methods:A retrospective analysis of 51 patients treated for DF from January 2004 to December 2013 was undertaken. The RFS was calculated using the Kaplan–Meier curve. Univariate analysis was done to assess correlation with tumour size, site, the extent of surgery, margin status and adjuvant RT with RFS.Results:The median age was 28 years with a male:female ratio of 1:3. The most common location of the tumour was anterior abdominal wall (47%). The median tumour size was 10 cm. Wide local excision was done in most patients. Complete resection with negative margin was achieved in eight patients. Post-operative RT was indicated for 43 patients of whom 19 received RT. At a median follow-up of 37 months, RFS in the complete resection with margin negative group was 100%. RFS for the patients with positive or close margins who received RT was 79% and for those who did not receive RT, it was 87%.Conclusions:Complete excision with negative margins gives the best local control in DF. The benefit of post-operative RT could not be ascertained.
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50
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Boland MR, Nugent T, Nolan J, O'Mahony J, O'Keeffe S, Gillham CC, Maguire A, Geraghty J, McCartan D, Evoy D, Prichard RS, McDermott EW, Alazawi D, Boyle TJ, Connolly EM. Fibromatosis of the breast: a 10-year multi-institutional experience and review of the literature. Breast Cancer 2020; 28:168-174. [PMID: 32780320 DOI: 10.1007/s12282-020-01145-5] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/03/2020] [Accepted: 08/06/2020] [Indexed: 12/17/2022]
Abstract
BACKGROUND Breast fibromatosis is a rare clinical entity, but poses significant diagnostic and therapeutic challenges. In light of recent changes in management practices, the aim was to review our institutional experience of breast fibromatosis and provide a review of current available literature on such management. METHODS A search of pathological databases within two tertiary institutions for all patients diagnosed with fibromatosis of the breast over a 10-year period (2007-2016) was performed. Clinicopathological characteristics and modes of treatment were recorded for each patient. Concurrently a comprehensive literature search was performed and studies relating to breast fibromatosis and its management were identified and reviewed. RESULTS Sixteen patients were identified. Median age at diagnosis was 42 (range 21-70) and all patients were diagnosed with core biopsy. The most useful imaging modality in diagnosis was ultrasonography and magnetic resonance imaging. 13/16 were treated surgically whilst 3/16 were treated using a watch-and-wait approach. 6/13 (46%) required re-excision of margins and 2/13 (15%) had recurrence after surgery. On review of the literature, there is no dedicated guideline in place for the management of breast fibromatosis. Currently a 'watch and wait' approach is favoured over surgical intervention due to high levels of recurrence and associated surgical morbidity. All cases should be discussed at a sarcoma multidisciplinary team meeting and tyrosine kinase inhibitors should be considered in advanced cases. CONCLUSIONS Breast fibromatosis is rare but affects young patients. Active surveillance is now favoured over surgical resection due to high recurrence rates and extensive morbidity. Dedicated guidelines are required to ensure best outcomes.
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Affiliation(s)
- Michael R Boland
- Departments of Breast Surgery, St James' Hospital, Dublin, 8, Ireland.
| | - Timothy Nugent
- Departments of Breast Surgery, St James' Hospital, Dublin, 8, Ireland
| | - Jack Nolan
- Department of Breast Surgery, St Vincents Hospital, Dublin, 4, Ireland
| | - Johnny O'Mahony
- Departments of Radiology, St James' Hospital, Dublin, 8, Ireland
| | - Sylvia O'Keeffe
- Departments of Radiology, St James' Hospital, Dublin, 8, Ireland
| | - Charles C Gillham
- Departments of Radiation Oncology, St James' Hospital, Dublin, 8, Ireland
| | - Aoife Maguire
- Departments of Pathology, St James' Hospital, Dublin, 8, Ireland
| | - James Geraghty
- Department of Breast Surgery, St Vincents Hospital, Dublin, 4, Ireland
| | - Damian McCartan
- Department of Breast Surgery, St Vincents Hospital, Dublin, 4, Ireland
| | - Denis Evoy
- Department of Breast Surgery, St Vincents Hospital, Dublin, 4, Ireland
| | - Ruth S Prichard
- Department of Breast Surgery, St Vincents Hospital, Dublin, 4, Ireland
| | - Enda W McDermott
- Department of Breast Surgery, St Vincents Hospital, Dublin, 4, Ireland
| | - Dhaffir Alazawi
- Departments of Breast Surgery, St James' Hospital, Dublin, 8, Ireland
| | - Terence J Boyle
- Departments of Breast Surgery, St James' Hospital, Dublin, 8, Ireland
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