Ultrasound (US) is rapidly gaining attraction among physicians for the evaluation of fasciae. Unlike traditional imaging, which often lacks specificity of pain localization, US examination stands out as a versatile tool, capable of detecting both structural and functional information. This unique capability allows for a comprehensive assessment of fasciae-the intricate connective tissue essential for human biomechanics. US examination offers a multiparametric approach for the assessment of thickness, echogenicity, stiffness, deformation and shear strain. This comprehensive examination is invaluable for identifying fascial pathologies that may not be detected during physical examination. In this study, we render and discuss common/elementary lesions of the fascia.

For both general radiologists and those specializing in soft tissue sarcoma imaging, understanding the importance and basic concepts of molecular pathology is becoming increasingly relevant to current clinical practice. As molecular research identifies the most fundamental causes and markers of disease, diagnostic testing is increasingly focused on the cell nucleus and its genetic material. Identifying molecular abnormalities, such as mutations, deletions, and amplifications, has advanced our ability to diagnose genetic diseases, including a variety of cancers. Over the past two decades, molecular pathology has rapidly evolved, enhancing our understanding of sarcoma pathogenesis, diagnosis, and classification. This progress forms the foundation of the 2020 WHO classification of soft tissue and bone tumors. This article will highlight cases where molecular diagnostics are crucial for the definitive classification and diagnosis of select soft tissue tumors, with MRI correlation and key teaching points.

Desmoid-type fibromatosis (DTF) is a benign but locally aggressive neoplasm characterized by persistent fibroblast activation, unlike reactive fibrosis (RF), where fibroblast activation is transient. Although the Wnt/β-catenin signaling pathway is known to play a role in DTF pathogenesis, the specific genetic drivers contributing to this abnormal fibroblast activation are not fully understood. To identify additional driver genes that underlie the persistent activation of fibroblasts in DTF, we conducted a comparative transcriptome analysis between 29 DTF and 14 RF tissue samples, identifying 4267 differentially expressed genes (DEGs) specific to DTF. These DTF-specific DEGs were significantly associated with pathways involved in embryonic limb morphogenesis and muscle contraction, whereas RF-specific DEGs were linked to immune response and apoptosis. Using weighted gene coexpression network analysis to further elucidate the key regulatory circuits associated with persistent activation of DTF fibroblasts, we identified a highly DTF-specific gene module comprising 120 genes. This module was also significantly enriched in other fibroproliferative conditions showing persistent fibroblast activation, such as keloid disease and idiopathic pulmonary fibrosis. Subsequent analyses identified 7 driver transcription factors (ZNF536, IRX5, TWIST2, NKD2, PAX9, SHOX2, and SALL4) within this DTF-specific module that may contribute to the sustained activation of DTF fibroblasts. We further assessed the utility of 5 key genes from this module (TWIST2, LRRC15, CTHRC1, SHOX2, and SALL4) as potential biomarkers to distinguish DTF from RF using immunohistochemistry. All markers demonstrated excellent diagnostic performance, with TWIST2 showing exceptionally high sensitivity and specificity, surpassing β-catenin, the current standard biomarker for DTF. In conclusion, our study identifies gene modules and driver transcription factors that are highly specific to DTF, offering new insights into the genetic underpinnings of abnormal fibroblast activation in DTF. We also propose novel biomarkers that could improve the diagnostic accuracy and clinical management of DTF.

Pediatric soft-tissue sarcomas (STSs) are aggressive malignancies with poor prognoses, particularly in recurrent and metastatic cases. Standard therapies, such as cytotoxic chemotherapy, offer limited survival benefits and carry significant toxicities, underscoring the urgent need for innovative therapeutic approaches. CYP2W1, a tumor-specific monooxygenase enzyme, has emerged as a promising therapeutic target due to its aberrant expression in various cancers. However, its role in pediatric STSs remains poorly understood. This study evaluated CYP2W1 expression in 42 pediatric STS samples across seven histological subtypes using qPCR and Western blot analyses. High CYP2W1 expression was detected in 69% of tumor samples at the mRNA level and in 40.5% at the protein level, compared to absent or negligible expression in matched normal tissues (p < 0.001). Synovial sarcoma and rhabdomyosarcoma subtypes exhibited the highest CYP2W1 protein expression, at 70% and 62.5%, respectively. Furthermore, CYP2W1 expression was significantly associated with higher histological grade, advanced tumor stage, and a trend toward reduced overall survival (p = 0.082). These findings indicate that CYP2W1 is aberrantly expressed in a subset of pediatric STSs, contributing to tumor aggressiveness and highlighting its potential as a novel therapeutic target for these challenging malignancies.

Spindle cell rhabdomyosarcoma (SCRM), a rare and distinct subtype of RM, predominantly affects children. While SCRM can manifest in the head and neck regions of adults, primary occurrences in the thorax are exceedingly uncommon. In the present study, a 24-year-old female patient was admitted to the Affiliated Hospital of Zunyi Medical University (Zunyi, China) with a 10-month history of dull pain in the right side of the chest. The patient had previously received treatment for right-sided tuberculous pleurisy at another hospital for 6 months, but the symptoms persisted, and the chest pain progressively worsened. A chest computed tomography scan now revealed a large mass in the right thorax. Pathological examination following surgical resection confirmed a diagnosis of SCRM. The patient did not undergo standardized postoperative chemoradiotherapy and the 5-year follow-up examination indicated tumor recurrence. Primary thoracic SCRM is a rare tumor that morphologically resembles other spindle cell tumors. Immunohistochemistry is crucial for an accurate diagnosis, and surgical resection remains the primary treatment approach. The clinicopathological features, molecular genetic characteristics and biological behavior of SCRM are largely unknown due to its rarity. Consequently, large-sample studies are essential to enhance the understanding of this tumor and advance precision medicine treatments.

Diaphragmatic fibromatosis is an exceptionally rare condition, with only 2 previously reported cases in the literature. We present the case of a 23-year-old woman with a left hypochondrial swelling measuring 19×18×13 cm on computed tomography. An endoscopic ultrasound-guided biopsy indicated low-grade papillary proliferation. Surgical exploration revealed a large mass originating from the left hemidiaphragm. Complete excision of the mass and reconstruction of the diaphragm with double-layer mesh were performed. Microscopic examination of the mass revealed a bland-looking spindle cell proliferation. Immunohistochemical staining showed a positive nuclear reaction in tumor cells for β-catenin, a focal positive reaction for SMA, and negative reactions for S100, CD34, and desmin. Diaphragmatic fibromatosis is an extremely rare tumor for which complete excision and reconstruction of the diaphragm is the best suggested modality of treatment.

Desmoid fibromatosis (DF) is an extremely rare tumor, which is locally aggressive in nature with no metastatic potential. Presenting symptoms depend on tumor size, site and progression speed. Most commonly occur sporadically, or associated with familial adenomatous polyposis (FAP). Factors may contribute to develop DF are trauma or surgical incision. In this article, we report a 41-years old male, which had partial upper pole nephrectomy, and developed lower pole desmoid fibrosis proven by histopathology. To our best knowledge, there are no article discussed the 2 different tumors occur in the same kidney at 2 different locations.

Desmoid tumors or aggressive fibromatosis are locally aggressive benign tumors. These arise anywhere in the body but are commonly seen in the anterior abdominal wall. The main treatment choices are continuous surveillance, adjuvant chemotherapy, surgery, and postoperative chemotherapy. However, where needs arise, surgery may be done, specifically wide local excision with adequate clearance. In our case report we show a case of a male patient presenting with umbilical hernia and an incidental discovery of a desmoid tumor that was closely proximate to the herniated sac. The plan of action planned were sac excision followed by tumor excision and then anatomical repair, that is, umbilical herniorrhaphy and postoperative chemotherapy.

Desmoid-type fibromatosis is an uncommon fibroblastic or myofibroblastic tumour arising in deep soft tissues with no metastatic potential. This case report presents a 78-year-old male patient with an incidental finding of desmoid-type fibromatosis of the abdomen with recurrence within two years and required surgical interventions. Primarily, a computed tomography (CT) of the abdomen and pelvis showed an incidental finding of a large soft tissue mass in the right iliac fossa mesentery measuring 11 by 8.5 cm. The patient underwent a successful elective exploratory laparotomy and resection of the mass along with a small bowel. A final pathology revealed the mass to be a primary desmoid of the small bowel. Despite clear resection margins, the patient developed recurrence after 17 months, which was treated with surgical resection. His post-operative course was uneventful. The patient's clinical presentation, management, and diagnosis are discussed in this case report.

Aggressive fibromatosis (AF), also known as desmoid tumor or desmoid-type fibromatosis, is a rare soft tissue neoplasm that can occur in almost any part of the body. Although it is a benign disease, AF is aggressive and infiltrative and has a high recurrence rate after surgery. Common sites for intra-abdominal AF are the small bowel mesentery, retroperitoneum, and pelvis. AF in the colon is extremely rare.

Here, we report the first case of sigmoid colon AF, which was accidentally discovered in a 27-year-old woman during laparoscopic myomectomy. Computed tomography confirmed a slightly enhanced mass in the sigmoid colon. Subsequent colonoscopy did not reveal a mass in the colonic lumen, but a suspected external compress was found in the sigmoid colon. Surgical disease involving a gastrointestinal stromal tumor was suspected. The patient underwent laparoscopic exploration, and sigmoidectomy with a negative margin was performed to excise the mass. Postoperative immunohistochemistry revealed that the mass was an AF. The patient recovered well and was recurrence-free at the 30-month follow-up without adjuvant therapy.

AF should be considered in the differential diagnosis of subepithelial colon masses. Radical resection alone can achieve good outcomes.

Extra-abdominal desmoid fibromatosis arising from the oesophagus and the contemporaneous traction diverticula due to an oesophageal tumour is extremely rare. We present this complex situation in a 2-year-old girl which posed a surgical challenge requiring simultaneous management of multiple pathologies. Surgery addressed both the entities and the presence of the diverticulum facilitated achieving negative surgical margins.

Hereditary adenomatous polyposis syndromes, including familial adenomatous polyposis and other rare adenomatous polyposis syndromes, increase the lifetime risk of colorectal and other cancers.

A team of 38 experts convened to update the 2008 European recommendations for the clinical management of patients with adenomatous polyposis syndromes. Additionally, other rare monogenic adenomatous polyposis syndromes were reviewed and added. Eighty-nine clinically relevant questions were answered after a systematic review of the existing literature with grading of the evidence according to Grading of Recommendations, Assessment, Development, and Evaluation methodology. Two levels of consensus were identified: consensus threshold (≥67% of voting guideline committee members voting either 'Strongly agree' or 'Agree' during the Delphi rounds) and high threshold (consensus ≥ 80%).

One hundred and forty statements reached a high level of consensus concerning the management of hereditary adenomatous polyposis syndromes.

These updated guidelines provide current, comprehensive, and evidence-based practical recommendations for the management of surveillance and treatment of familial adenomatous polyposis patients, encompassing additionally MUTYH-associated polyposis, gastric adenocarcinoma and proximal polyposis of the stomach and other recently identified polyposis syndromes based on pathogenic variants in other genes than APC or MUTYH. Due to the rarity of these diseases, patients should be managed at specialized centres.

Desmoid fibromatosis is an uncommon soft tissue tumor that is locally aggressive and can result in both pain and limited range of motion (ROM). The rehabilitation protocol is designed to promote optimal recovery and functional outcomes by following a phased approach. Initially, the focus is on managing pain and performing passive ROM exercises immediately after surgery. As the weeks progress, the exercises transition to active-assisted and then active ROM exercises. Additionally, strengthening exercises, manual therapy techniques, and functional training are incorporated to improve muscle strength, flexibility, and coordination. The goal of the rehabilitation journey is to ensure a safe return to daily activities while closely monitoring for any signs of recurrence or functional deficits. This comprehensive approach highlights the importance of collaboration between surgical teams, rehabilitation specialists, and patients in order to achieve successful outcomes.

New applications of immunohistochemistry (IHC) expand rapidly due to the development of molecular analyses and an increased understanding of molecular biology. IHC becomes much more important as a screening or even a confirmatory test for molecular changes in cancer. The past decades have witnessed the release of many immunohistochemical markers of the new generation. The novel markers have extensively high specificity and sensitivity for the detection of genetic abnormalities. In addition to diagnostic utility, IHC has been validated to be a practical tool in terms of treatments, especially molecular targeted therapy. In this review, we first describe the common alterations of protein IHC staining in human cancer: overexpression, underexpression, or loss of expression and altered staining pattern. Next, we examine the relationship between staining patterns and genetic aberrations regarding both conventional and novel IHC markers. We also mention current mutant-specific and fusion-specific antibodies and their concordance with molecular techniques. We then describe the basic molecular mechanisms from genetic events to corresponding protein expression patterns (membranous, cytoplasmic, or nuclear patterns). Finally, we shortly discuss the applications of immunohistochemistry in molecular targeted therapy. IHC markers can serve as a complementary or companion diagnostic test to provide valuable information for targeted therapy. Moreover, immunohistochemistry is also crucial as a companion diagnostic test in immunotherapy. The increased number of IHC novel antibodies is broadening its application in anti-cancer therapies.

Lipoma, the most common mesenchymal tumor, often appears as a slow-growing mass in the musculoskeletal system (MSK). While generally non-invasive, their location can cause symptoms. Desmoid fibromatosis (DF), a rare and locally aggressive neoplasm, poses challenges in MSK system diagnosis and management due to its infiltrative nature. Despite lacking metastatic potential, DF has a high recurrence rate, classifying it as "intermediate, locally aggressive" in the WHO classification. Collaborative efforts among orthopedic surgeons, radiologists, and pathologists are crucial for accurate diagnosis and treatment planning for all tumors of the MSK system. This case report presents the first documented example of a DF within a lipoma, highlighting the challenges of diagnosing and treating musculoskeletal tumors.

Desmoid tumors (DTs), also called desmoid-type fibromatoses, are locally aggressive tumors of mesenchymal origin. In the present study, we developed a novel mouse model of DTs by inducing a local mutation in the Ctnnb1 gene, encoding β-catenin in PDGFRA-positive stromal cells, by subcutaneous injection of 4-hydroxy-tamoxifen. Tumors in this model resembled histologically clinical samples from DT patients and showed strong phosphorylation of nuclear SMAD2. Knockout of SMAD4 in the model significantly suppressed tumor growth. Proteomic analysis revealed that SMAD4 knockout reduced the level of Cysteine-and-Glycine-Rich Protein 2 (CSRP2) in DTs, and treatment of DT-derived cells with a TGF-β receptor inhibitor reduced CSRP2 RNA levels. Knockdown of CSRP2 in DT cells significantly suppressed their proliferation. These results indicate that the TGF-β/CSRP2 axis is a potential therapeutic target for DTs downstream of TGF-β signaling.

A desmoid tumor (DT) is a rare benign neoplasm arising from muscle aponeurosis, associated mostly with trauma or pregnancy. DT has an infiltrative and locally aggressive growth pattern and usually does not metastasize. However, it has a high recurrence and complication rate. When it occurs in pregnancy, the pregnancy and delivery is taken as an individual case for optimal management by physicians and midwifes, who need to be cautious in finding the optimal delivery mode for the patient, which depends on the tumor size, location, behavior, and past history. The authors report a case of 29-year-old pregnant woman who previously underwent systemic oncological treatment for a large abdominal wall desmoid tumor and became pregnant afterwards. The history of DT presented a follow-up and delivery challenge. Observational management was chosen with an elective cesarean section at week 38 + 4 of pregnancy with uncomplicated postpartum follow-up. The authors detail the clinical management and chosen therapeutic approach; chemotherapy can be a choice in the treatment options for patients with DTs, although the majority of DTs are treated surgically with subsequent mesh plastic. Moreover, the authors provide a systematic review of the literature focused on the treatment management of DTs in pregnant women during pregnancy and the postpartum period, as pregnancy-associated desmoid tumors are a specific condition, where the optimal management is not well established, despite some guidelines for non-pregnant patients.

Desmoid fibromatosis (DF) is a rare and locally aggressive neoplasm. We present a case of a 28-year-old previously healthy multigravida who noticed a lump in her abdomen near the umbilicus two months before becoming pregnant. It underwent rapid growth during pregnancy, causing pain and discomfort. Targeted ultrasound of the area showed an irregular mass measuring 0.9 × 1.7 × 1.4 cm. The origin of the mass was unclear, suggesting a connection with the intra-abdominal contents. An MRI done three weeks later revealed a subcutaneous ovoid mass measuring 3.0 × 2.3 × 3.0 cm, which was significantly larger. Due to pain and rapid growth, surgical resection was done at 25 weeks of pregnancy. Histopathological examination revealed a desmoid tumor. The patient had an uneventful recovery and term vaginal delivery without complications. Hence, our case serves as evidence that DF tumors can be surgically managed during pregnancy with minimal to no complications.

Precision surgery is becoming increasingly important in the field of Orthopaedic Oncology. Image-guided percutaneous cryosurgery (CRA) has emerged as a valid treatment modality for extra-abdominal desmoid tumors (EDTs). To date, most CRA procedures use CT-based guidance which fails to properly characterize tumor segments. Computer-guided MRI navigation can address this issue however, the lack of a fixed landmark for registration remains a challenge. Successful CRA correlates directly with precision approaches facilitated by intraoperative imaging guidance. This is the first study that attempts to assess the feasibility and efficacy of a novel approach of using skin fiducial markers to overcome the challenge of a MRI-based navigation CRA for symptomatic or progressive EDTs.

In this retrospective study conducted between 2018 and 2020, 11 patients at a single center with symptomatic or progressive EDTs were treated with CRA using intraoperative MRI navigation. Fifteen cryosurgery procedures were performed, each adhering to a personalized pre-operative plan. Total tumor size, viable and non-viable portions pre- and post-operation, and SF-36 questionnaire evaluating subjective health were recorded.

All CRAs demonstrated 100% adherence to the predetermined plan. Overall, tumor size decreased Median= -56.9% [-25.6, -72.4]) with a reduction in viable tissue, (Median= -80.4% [-53.3, -95.2]). Four patients required additional CRAs. Only one patient's tumor did not reduce in size. One patient suffered from local muscle necrosis. Pre-operation, the average physical and mental scores 41.6 [29.4, 43] and 26.3 [17.6, 40.9] respectively. Post-operation, the average physical and mental scores were 53.4[38, 59.7] and 38 [31.2, 52.7] respectively.

These findings provide an early indication of the feasibility and efficacy of performing percutaneous cryosurgery using skin fiducial marker registration for MRI-computed navigation to treat EDTs safely. Larger cohorts and multicenter evaluations are needed to determine the efficacy of this technique.

Desmoid-type fibromatosis (DF) is characterized by a rare monoclonal fibroblast proliferation that exhibits variable and unpredictable clinical presentation. DF can be classified into sporadic and hereditary types. Despite extensive research efforts, the exact etiology of DF remains elusive.

A 31-year-old male patient presented to the hospital with a progressively growing mass in the right lower abdomen, accompanied by abdominal discomfort. Symptoms are discovered 1 week before admission. Enteroscopy revealed no evidence of colonic abnormalities, and blood tests did not indicate any abnormalities. Due to the indeterminate nature of the mass during surgery, a partial resection of the ileum and cecum was performed, followed by ileocolonic end-to-end anastomosis, with no postoperative complications. The final pathological diagnosis confirmed primary desmoid-type fibromatosis of the distal ileum (invasive fibromatosis). To effectively manage DF, we recommend a follow-up schedule for patients. This includes appointments every 3 months in the first year following surgery, followed by appointments every 6 months up to the fifth year, and then once a year thereafter. The follow-up examinations should include collection of the patient's medical history, physical examination, blood tests, ultrasounds, CT scans, and other relevant assessments. During the first year of the follow-up period, no further treatment was administered, and the patient remained disease-free.

Desmoid-type fibromatosis (DF) originating from the small intestine is an extremely rare condition that exhibits local invasiveness and can be life-threatening. Despite its benign histology, DF has a high local recurrence rate and lacks metastatic potential. Diagnosis of DF remains challenging, especially in cases where surgical intervention is not feasible due to asymptomatic patients or partial organ impairment. In such cases, a "watchful waiting" approach is recommended as the initial treatment strategy. However, when preoperative diagnosis is difficult, surgery is typically considered the best option. Given the potential for local recurrence and the uncertain long-term prognosis, regular follow-up is necessary.

BACKGROUND Desmoid tumors are a fibroblastic proliferation of soft tissues, with an extreme inclination for local dissemination and recurrence. Surgical excision is the usual treatment choice, with data regarding pharmaceutical treatment being scarce. CASE REPORT A 74-year-old female patient was admitted to "Laikon" General Hospital of Athens, Greece presenting with acute kidney injury secondary to diarrhea. The ultrasound, CT, and abdominal MRI performed showed a 12×6×10 cm tumorous liver lesion. Biopsy of the lesion revealed loosely organized, mesenchymal tissue with spindle cells, and myxoid stroma. Immunochemistry was positive for SMA and b-catenin. Right hemicolectomy was performed with tumor-free surgical margins (R0 resection) and tamoxifen was initiated. Six months after the last MRI (3 months after the use of tamoxifen), a follow-up MRI was performed. The tumor had increased to 14.2×11×12.3 cm, and at the next follow-up it had grown to 20.3×19 cm maximal dimensions; no new metastases were found. The patient received sorafenib and pazopanib. Our patient had PFS with sorafenib for more than 2 years and remained in a good performance status (ECOG 1). For Pazopanid, the median PFS for this treatment option was 6.5 months. CONCLUSIONS The results were good and show a promising method for the treatment of this rare but severe malignancy.

The GODDESS© tool was developed to assess Desmoid Tumor/Aggressive Fibromatosis (DT/AF) symptom severity and impact on patients' lives. This study evaluated GODDESS©'s cross-sectional and longitudinal measurement properties.

The Phase 3, randomized placebo-controlled, DeFi study (NCT03785964) of nirogacestat in DT/AF was used to assess GODDESS©'s reliability, construct validity, responsiveness, and estimate of meaningful change thresholds (MCTs). Other patient-reported outcome (PRO) measures included Patient Global Impression of Severity (PGIS) in DT/AF symptoms, EORTC QLQ-C30, Brief Pain Inventory Short Form, and PROMIS Physical Function short-form 10a v2.0 plus 3 items.

DeFi participants (N = 142) had a median age of 34 years (range: 18-76) and were mostly female (64.8%), with extra-abdominal (76.8%) or intra-abdominal tumors (23.2%). The GODDESS© symptom/impact scales showed internal consistency at baseline, cycles 4 and 7 (Cronbach's α > 0.70) and test-retest reliability (intra-class correlation coefficient > 0.85). GODDESS© scales correlated moderately to highly with PRO measures capturing similar content and differentiated among PGIS and Eastern Cooperative Oncology Group groups. GODDESS© scales detected improvement over time. For the total symptom score, a 1.30-point decrease was estimated as the within-person MCT and a 1.00-point decrease as the between-group MCT. For the physical functioning impact score, estimated within- and between-group MCTs were 0.60-point and 0.50-point decreases, respectively. Few participants exhibited symptom worsening.

GODDESS© was found to be reliable, valid, responsive, and interpretable as a clinical trial endpoint in the pooled sample of DT/AF patients. Estimated MCTs can be used to define responders and assess group-level differences in future, unblinded, efficacy analyses.

NCT03785964; December 24, 2018.

Wiskott-Aldrich syndrome (WAS) is an X-linked recessive primary immunodeficiency disorder characterized by severe eczema, recurrent infections, and micro-thrombocytopenia. Allogeneic hematopoietic stem cell transplantation (HSCT) is a potentially curative therapeutic option for patients with classic form. The risk of developing post-transplant tumors appears to be higher in patients with WAS than in other inborn errors of immunity (IEIs), but the actual incidence is not well defined, due to the scarcity of published data.

Herein, we describe a 10-year-old patient diagnosed with WAS, treated with HSCT in the first year of life, who subsequently developed two rare solid tumors, kaposiform hemangioendothelioma and desmoid tumor. A review of the literature on post-HSCT tumors in WAS patients has been performed.

The patient received diagnosis of classic WAS at the age of 2 months (Zhu score = 3), confirmed by WAS gene sequencing, which detected the nonsense hemizygous c.37C>T (Arg13X) mutation. At 9 months, patient underwent HSCT from a matched unrelated donor with an adequate immune reconstitution, characterized by normal lymphocyte subpopulations and mitogen proliferation tests. Platelet count significantly increased, even though platelet count never reached reference values. A mixed chimerism was also detected, with a residual WASP- population on monocytes (27.3%). The patient developed a kaposiform hemangioendothelioma at the age of 5. A second abdominal tumor was identified, histologically classified as a desmoid tumor when he reached the age of 10 years. Both hematopoietic and solid tumors were identified in long-term WAS survivors after HSCT.

Here, we describe the case of a patient with WAS who developed two rare solid tumors after HSCT. An active surveillance program for the risk of tumors is necessary in the long-term follow-up of post-HSCT WAS patients.

Desmoid tumors (DT) are rare, locally aggressive, fibroblastic soft-tissue tumors that are characterized by infiltrative growth and can affect organs and adjacent structures, resulting in substantial clinical burden impacting patients' health-related quality of life. Searches of PubMed, Embase, Cochrane, and key conferences were conducted in November 2021 and updated periodically through March 2023 to identify articles describing the burden of DT. Of 651 publications identified, 96 relevant ones were retained. Diagnosis of DT is challenging because of its morphologic heterogeneity and variable clinical presentation. Patients visit multiple healthcare providers, often facing delays in correct diagnosis. The low incidence of DT (estimated 3-5 cases per million person-years) limits disease awareness. Patients with DT experience a high symptom burden: up to 63% of patients experience chronic pain, which leads to sleep disturbance (73% of cases), irritability (46% of cases), and anxiety/depression (15% of cases). Frequently mentioned symptoms are pain, limited function and mobility, fatigue, muscle weakness, and swelling around the tumor. Overall, quality of life in patients with DT is lower than in healthy controls. There is no treatment approved by the US Food and Drug Administration for DT; however, treatment guidelines reference available options, such as active surveillance, surgery, systemic therapy, and locoregional therapy. Choice of active treatment may depend on tumor location, symptoms, and risk of morbidity. The substantial burden of illness of DT is related to difficulties in timely and accurate diagnosis, high symptom burden (pain and functional limitations), and decreased quality of life. There is a high unmet need for treatments that specifically target DT and improve quality of life.

Desmoid tumours are a rare fibroblastic proliferation of monoclonal origin, arising in deep soft-tissues. Histologically, they are characterized by locally aggressive behaviour and an inability to metastasize, and clinically by a heterogeneous and unpredictable course. Desmoid tumours can occur in any anatomical site, but commonly arise in the limbs. Despite their benign nature, they can be extremely disabling and sometimes life-threatening, causing severe pain and functional limitations. Their surgical management is complex and challenging, due to uncertainties surrounding the biological and clinical behaviour, rarity, and limited available literature. Resection has been the first-line approach for patients with a desmoid tumour but, during the last few decades, a shift towards a more conservative approach has occurred, with an initial 'wait and see' policy. Many medical and regional forms of treatment are also available for the management of this condition, and others have recently emerged with promising results. However, many areas of controversy remain, and further studies and global collaboration are needed to obtain prospective and randomized data, in order to develop an appropriate shared stepwise approach.

Nine cases of mesenteric desmoid-type fibromatosis were diagnosed and treated in Taizhou Hospital, Wenzhou Medical University between January 2010 and May 2022, including 2 females and 7 males, aged 16 to 59 years. The lesions were in the mesentery of small intestine with 7 cases, ileocecal junction with 1 cases and transverse colon with 1 case. The tumors had an unclear boundary and no envelope, the section was solid, gray and tough. The mean maximum diameter was (10.7±8.5) cm (range 3.5-33.0 cm). Microscopically, fusiform fibroblasts and myofibroblasts were parallel, bunched or staggered, buried in a large amount of extracellular collagen. The cell morphology was relatively consistent, without obvious atypia, and mitosis was rare. Immunohistochemistry showed that the tumor cells were positive for vimentin (9/9), β-catenin (9/9), while smooth muscle actin (5/9) stains were focally positive. Ki-67 proliferation index was 1%-10%. Cytokeratin Pan, S-100, STAT6, CD117, DOG1, CD34, desmin and anaplastic lymphoma kinase stains were negative. Genetic analysis showed that there were 7 cases of c.121G>A(p.Thr41Ala) mutation of CTNNB1 gene, 1 case of c.121G>A(p.Thr41Ala) and 1 case of c.134C>T(p.Ser45Phe) double mutation, and 1 case of wild type. Tumors were surgically resected in all 9 cases. Eight cases had no recurrence or metastasis, 1 case had recurrence 6 months later, and no recurrence or metastasis after additional surgical resection.

Abdominal wall desmoid-type fibromatoses (AWDF) are occasionally encountered in clinical work, but related CT reports are rare, and most cases were misdiagnosed as malignant tumors.

We aimed to determine the diagnostic value of multislice computed tomography (MSCT) in relation to the clinical diagnosis of AWDF.

The medical records of 14 patients whose pathology results provided initial confirmation of AWDF were reviewed, and data describing their clinical characteristics, tumors' MSCT characteristics, and the condition of the surrounding tissues were analyzed and summarized retrospectively. Intraobserver and interobserver reproducibilities were evaluated.

AWDF tended to occur in women of childbearing age (24-32 years). They occurred more frequently during the first year following pregnancy. The mean disease duration was 5.64 ± 3.78 months. All isolated tumors were growing along the musculoaponeurotic layer, and their maximum diameters were between 32 and 76 mm. Tumors' capsules were incomplete, and although the tumors infiltrated the surrounding muscles, the surrounding fat tissue and vessels were not infiltrated. None of the patients' tumors showed cystic degeneration, calcification, necrosis, or peritumoral edema. The tumors had slightly lower densities on the pre-contrast enhancement scans and mild-to-moderate enhancement after contrast enhancement. All tumors contained ribbon-like structures, and approximately 65% of the tumors encircled vascular structures.

Dual-phase contrast-enhanced MSCT scans were associated with a high level of diagnostic efficacy for AWDF. The abdominal wall masses grew along the musculoaponeurotic layer, which, together with the ribbon-like structures within the tumors, should prompt clinicians to consider the presence of AWDF.

Desmoid fibromatosis (DSM) is a rare, locally aggressive mesenchymal tumor genetically characterized by mutations in the CTNNB1 gene. A local control rate of up to 65‒80% for DSM is achieved with multiple modality treatments, including watchful monitoring, radiation therapy, chemotherapy, and surgery. However, several variables, such as age < 30 years, extremity tumor location, and tumor size of > 10 cm in diameter, are associated with poor local control rates in patients with DSM. The definitive treatments for DSM have not been established. Therefore, it is necessary to develop novel treatments for DSM. Moreover, although patient-derived tumor cell lines are potent tools for preclinical research, no DSM cell lines have been reported. Therefore, this study aimed to establish and characterize a novel DSM cell line for preclinical studies on DSM. Herein, we established the first cell line derived from a patient with DSM exhibiting poor prognostic factors (27-year-old male patient with a DSM tumor of > 10 cm in diameter located at the lower extremity) and named it NCC-DSM1-C1. NCC-DSM1-C1 cells had a T41A mutation in CTNNB1 and exhibited constant proliferation, spheroid formation, and invasion capability in vitro. Screening of antitumor agents in NCC-DSM1-C1 cells showed that bortezomib and romidepsin are effective against DSM. In conclusion, we report the first officially characterized DSM cell line derived from a patient with DSM exhibiting factors associated with poor prognosis. We believe that NCC-DSM1-C1 cell line is a useful tool for developing novel treatments for DSM.

Desmoid-type fibromatosis (DF) is a soft tissue tumor characterized by infiltrative growth and a tendency toward local recurrence, while it exhibits self-limiting behavior and shows spontaneous regression. With its unpredictable behavior, a change in treatment strategies from initial surgery to nonsurgical management has been proposed, and active surveillance is currently widely chosen as the initial treatment strategy for DF. We reviewed the imaging features of DF regarding its clinical course, focusing on regression cases, postoperative cases, and imaging changes after systemic treatment.

Desmoid tumors are rare mesenchymal neoplasms that are rapidly growing but do not metastasize. We present a case of a 75-year-old man with a history of non-Hodgkin lymphoma in remission incidentally found to have an enlarging internal mammary lymph node on screening CT, subsequently diagnosed as a desmoid tumor via biopsy. The patient was deemed unfit for surgical resection and instead underwent urgent radiation and immunotherapy. This report highlights a unique case of desmoid tumor presenting as mediastinal lymphadenopathy.

This study aimed to examine the efficacy of sulforaphane (SFN) in preventing radiation-induced muscle fibrosis (RIMF) and the potential role in nuclear factor erythroid 2-related factor 2 (Nrf2)-mediated antioxidant stress.

The RIMF model was established by a single irradiation of the left thigh of C57BL/6 J mice, and the mice were then randomly divided into control, SFN, irradiation (IR), and IR + SFN (IR/SFN) groups. The serum and skeletal muscle were collected eight weeks after irradiation, and changes in oxidative stress and muscle fibrosis were detected.

The IR group showed a more obvious skeletal muscle fiber atrophy, significantly higher number of collagen fibers, and higher inflammatory cell infiltration compared to control group. Compared to the IR group, the IR/SFN group had orderly arranged muscle fibers, decreased collagen fibers, and infiltration of inflammatory cells. In addition, compared with the control group, the expression of oxidative stress-related indexes was significantly increased, accompanied by activation of the transforming growth factor (TGF-β)/Smad pathway and its downstream fibrogenic molecules in the skeletal muscle of the IR group. After SFN intervention, the above indices were significantly restored. Furthermore, SFN induced the upregulation of Nrf2, activation of AKT, and inhibition of GSK-3β and Fyn accumulation.

These results revealed that Nrf2 plays a central role in protecting against RIMF. Furthermore, SFN prevents RIMF by activating Nrf2 via the AKT/GSK-3β/Fyn pathway.

A giant abdominal tumor with a large hiatal hernia remains a rare disease with few studies regarding its implications in anesthesia. A large hiatal hernia may compress the heart and cause arrhythmia and even cardiac arrest, which greatly increases the risks and challenges of anesthesia management.

We present a case in which a patient with a giant abdominal desmoid tumor and large hiatal hernia experienced a critical situation during anesthesia and surgery.

It is a great challenge for anesthesiologists to manage a patient's respiratory system and circulation. Careful perioperative management and optimized multidisciplinary teams are the key factors in the successful management of this rare condition. In addition, awake endotracheal intubation, ventilation preserving spontaneous breathing and target-directed fluid therapy play an essential role in anesthesia management.

Desmoid fibromatosis (DF) is a rare locally aggressive, connective tissue malignancy developing in musculoaponeurotic tissues with an incidence of 2-4 per million population. We presented a case of a 3-year-old patient with a left parapharyngeal mass, histopathological examination suggesting DF, who underwent complete surgical excision without recurrence or requirement of cardiac resynchronization therapy.

Medulloblastoma is the most common pediatric embryonal brain tumor, and may occur in cancer predisposition syndromes. We describe novel associations of medulloblastoma with atypical prolactinoma and dural high-grade sarcoma in Li-Fraumeni syndrome (LFS), and epidural desmoid fibromatosis in familial adenomatous polyposis (FAP)/Turcot syndrome. Genomic analysis showing XRCC3 alterations suggested radiotherapy as contributing factor to the progression of LFS-associated medulloblastoma, and demonstrated different mechanisms of APC inactivation in the FAP-associated tumors. The integrated genomic-transcriptomic analysis uncovered the growth pathways driving tumorigenesis, including the prolactin-prolactin receptor (PRLR) autocrine loop and Shh pathway in the LFS-associated prolactinoma and medulloblastoma, respectively, the Wnt pathway in both FAP-associated neoplasms, and the TGFβ and Hippo pathways in the soft tissue tumors, regardless of germline predisposition. In addition, the comparative analysis of paired syndromic neoplasms revealed several growth pathways susceptible to therapeutic intervention by PARP, PRLR, and selective receptor tyrosine kinase (RTK) inhibitors. These could target the defective DNA damage repair in the LFS-associated medulloblastoma, the prolactin autocrine loop in the atypical prolactinoma, the EPHA3/7 and ALK overexpression in the FAP-associated medulloblastoma, and the multi-RTK upregulation in the soft tissue neoplasms. This study presents the spatiotemporal evolution of novel neoplastic associations in syndromic medulloblastoma, and discusses the post-radiotherapy risk for secondary malignancies in syndromic pediatric patients, with important implications for the biology, diagnosis, and therapy of these tumors. Video 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.

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.

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.

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.

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.

Desmoid tumors are rare soft tissue tumors that can have aggressive infiltrative growth and relapse locally. Desmoid tumors can impact functionality and cause treatment-related morbidity and mortality. Here, the authors review current management strategies and avenues for further investigation. As part of the evolution of therapy away from primary surgical approaches to less invasive options, image-guided ablation has been accepted as less morbid and include cryoablation and high-intensity focused ultrasound. Systemic therapy options currently include hormonal agents, nonsteroidal anti-inflammatory drugs, tyrosine kinase inhibitors, and anthracycline-based regimens. Hormonal agents and nonsteroidal anti-inflammatory drugs have benign side effect profiles but generally limited efficacy. Anthracycline-based therapies are limited by the risk of secondary malignancies and cardiomyopathy. Tyrosine kinase inhibitors are well studied, and sorafenib is now one of the most utilized therapies, though limited by its side effect profile. Nirogacestat (PF-0308401) is an investigational small molecule gamma-secretase (GS) inhibitor that has demonstrated efficacy in phase 1 and II trials. A phase III trial investigating patients with desmoid tumors or aggressive fibromatosis is estimated to be completed December 2021 (NCT03785964). In addition to nirogacestat, the gamma-secretase inhibitor AL102 is being investigated for the treatment of patients with progressing desmoid tumors in the phase II/III RINGSIDE trial. Finally, the beta-catenin inhibitor Tegavivint (BC2059) is being investigated in a phase 1 open-label trial in patients with a proven primary or recurrent desmoid tumor that is unresectable and symptomatic or progressive.