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Zhao Y, Shi L. Coexistence of a small bowel gastrointestinal stromal tumor, small bowel adenocarcinoma and ganglioneuroma in a patient with neurofibromatosis type I caused intussusception. REVISTA ESPANOLA DE ENFERMEDADES DIGESTIVAS 2024; 116:291-292. [PMID: 37732340 DOI: 10.17235/reed.2023.9896/2023] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 09/22/2023]
Abstract
Neurofibromatosis type I is a relatively rare inherited disorder. Simultaneous occurrence of abdominal tumors of three types in NF-I and causing intussusception is rare. We report a synchronous case of small bowel gastrointestinal stromal tumor, small bowel adenocarcinoma, and ganglioneuroma complicated by intussusception in an old woman with NF-I. The patient presented with a 2-month history of abdominal pain and multiple neurofibromas and café au lait macules was found all over the patient's body. The enhanced computed tomography revealed a terminal ileal tumor which was significantly enhanced with secondary intussusception. The tumor of the ileum was considered to be NF-I-associated intestinal neurofibroma.Postoperative pathology and immunohistochemistry showed that the terminal ileocecal mass was adenocarcinoma and ganglioneuroma and intraoperative exploration also revealed a gastrointestinal stromal tumor. In this patient, the preoperative imaging was not compatible with the pathological findings.Either neurofibromatosis involving the intestine or neurofibromatosis with small bowel tumors should be managed aggressively to improve the patient's survival and quality of life.
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Affiliation(s)
- Yazhuo Zhao
- Interventional Radiology Center, Xiangya Hospital Central South University,
| | - Liangrong Shi
- Interventional Radiology Center, Xiangya Hospital Central South University,
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Nagano H, Ohyama S, Sato A, Igarashi J, Yamamoto T, Kadoya M, Kobayashi M. Jejunal gastrointestinal stromal tumor that developed in a patient with neurofibromatosis type 1: a case report. Diagn Pathol 2023; 18:110. [PMID: 37789344 PMCID: PMC10546696 DOI: 10.1186/s13000-023-01398-6] [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: 08/14/2023] [Accepted: 09/28/2023] [Indexed: 10/05/2023] Open
Abstract
BACKGROUND Neurofibromatosis type 1 (NF1) is known to be associated with the frequent occurrence of unique gastrointestinal stromal tumors (GISTs), preferably occurring in the small intestine, with no mutations in the c-kit proto-oncogene or platelet-derived growth factor receptor-alpha (PDGFRA), with a high tendency for multifocal development, indolent nature, with low proliferation activity and favorable prognosis. CASE PRESENTATION A woman in her forties visited her local doctor complaining of menstrual pain; a large mass was detected in her lower abdomen, and she was referred to our hospital. The patient had hundreds of skin warts and café au lait spots. The patient's mother had been diagnosed with type 1 neurofibromatosis. The patient met the diagnostic criteria for NF1 and was diagnosed with NF1. Ultrasonography showed a large heterogeneous cystic mass with various echo patterns, solid compartments and multiple septations. Magnetic resonance imaging showed a multilocular cystic mass with liquid content exhibiting various intensities, including that of blood. A small round solid mass was also observed close to the cystic tumor. Contrast-enhanced computed tomography showed that the round solid mass showed strong enhancement in the early phase, unlike the cystic tumor component. Open laparotomy revealed a multicystic exophytic tumor measuring 11.5 cm originating from the jejunal wall, 20 cm distal to the duodenojejunal flexure. A solid tumor measuring 2.1 cm was also found on the anal side of the large tumor. We resected the short segment of the jejunum, including the two lesions. Microscopic findings revealed that the cystic and solid tumors consisted of spindle-shaped tumor cells showing little atypia with a fascicular or bundle arrangement. Nuclear mitosis was scarce. Immunostaining of the tumor cells showed positive staining for KIT and DOG1 and negative staining for S100 and desmin. The NF1 patient was diagnosed with multiple GISTs accompanied by intratumoral hemorrhagic denaturation arising from the jejunum. The TNM staging was pT4N0M0, stage IIIA. CONCLUSION We report a case of GISTs associated with NF1 that showed a jejunal origin, multifocal development and few mitotic figures. The recurrence risk, survival prognosis and need for adjuvant chemotherapy, particularly in cases where the initial GIST exhibits a very indolent pathology in NF1-related GISTs, remain to be elucidated.
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Affiliation(s)
- Hideki Nagano
- Department of Surgery, Marunouchi Hospital, 1-7-45, Nagisa Matsumoto, Nagano, 390-0841, Japan.
| | - Shigekazu Ohyama
- Department of Surgery, Marunouchi Hospital, 1-7-45, Nagisa Matsumoto, Nagano, 390-0841, Japan
| | - Atsushi Sato
- Department of Surgery, Marunouchi Hospital, 1-7-45, Nagisa Matsumoto, Nagano, 390-0841, Japan
| | - Jun Igarashi
- Department of Surgery, Marunouchi Hospital, 1-7-45, Nagisa Matsumoto, Nagano, 390-0841, Japan
| | - Tomoko Yamamoto
- Department of Surgery, Marunouchi Hospital, 1-7-45, Nagisa Matsumoto, Nagano, 390-0841, Japan
| | - Masumi Kadoya
- Department of Radiology, Marunouchi Hospital, Matsumoto Nagano, Japan
| | - Mikiko Kobayashi
- Department of Pathology, Marunouchi Hospital, Matsumoto Nagano, Japan
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Portale G, Rulli R, Spolverato YC, Mascellino P. Reminder for the clinician: abdominal manifestations of type 1 neurofibromatosis are not so uncommon. BMJ Case Rep 2022; 15:e250951. [PMID: 35918081 PMCID: PMC9351337 DOI: 10.1136/bcr-2022-250951] [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: 06/18/2022] [Indexed: 11/03/2022] Open
Abstract
We describe the case of a woman in her 50s with abdominal pelvic masses suspected to be an ovarian lesion with metastases. At laparoscopy, it appeared as a possible abdominal location of neurofibromatosis type 1 (NF-1). A 50 cm of small bowel was resected to remove multiple nodular lesions. On histopathology, small bowel lesions (n=14) were all classified as GISTs. Clinicians should recognise and consider gastrointestinal manifestations of NF-1 in the diagnostic flow chart. Surgical treatment may resolve symptomatic cases and prevent local infiltration or malignant degeneration of abdominal neoplasms occurring in patients with NF-1.
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Affiliation(s)
| | - Roberto Rulli
- Gynecology, Azienda ULSS 6 Euganea, Cittadella, Italy
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Sang NV, Ninh TP, Thanh DT, Thinh NC. A case report of mesenteric involvement in neurofibromatosis type 1. J Clin Imaging Sci 2022; 12:43. [PMID: 36128353 PMCID: PMC9479501 DOI: 10.25259/jcis_49_2022] [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: 05/08/2022] [Accepted: 07/11/2022] [Indexed: 11/05/2022] Open
Abstract
Mutations in the Neurofibromatosis Type 1 (NF-1) gene, which is located on chromosome 17q11.2, are the cause of NF-1, an autosomal dominant hereditary condition in which tumors of the nerve system develop. Neurological, skeletal, and cutaneous abnormalities are symptoms of the condition. Of all gastrointestinal tract lesions, mesentery lesions are the least common. There are many gastrointestinal problems that can accompany mesenteric neurofibromas, or they may not. We describe a case of a 5-year-old kid with mesenteric neurofibromatosis, which results in bowel obstruction and abdominal discomfort. On a CT scan, the mesenteric vasculature was completely encircled by homogenous soft tissue lesions without any vessel wall invasion. Diffuse mesentery lesions were discovered during surgery, although they could not be fully removed.
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Affiliation(s)
- Nguyen Van Sang
- Department of Radiology, Thai Nguyen University of Medicine and Pharmacy, Thai Nguyen, Vietnam
| | - Tran Phan Ninh
- Department of Radiology, Vietnam National Children’s Hospital, Ha Noi, Vietnam
| | | | - Nguyen Cuong Thinh
- Department of Gastroenterology, 108 Military Central Hospital, Ha Noi, Vietnam
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Jayarajah U, Basnayake O, Wijerathne PK, Fernandopulle N, Sivaganesh S. Idiopathic gross dilatation of the pancreatic duct with exocrine insufficiency in a patient with type 1 neurofibromatosis. SAGE Open Med Case Rep 2022; 10:2050313X221087570. [PMID: 35355854 PMCID: PMC8958681 DOI: 10.1177/2050313x221087570] [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: 08/23/2021] [Accepted: 02/27/2022] [Indexed: 11/15/2022] Open
Abstract
Pancreatic duct dilatation occurs in conditions including chronic pancreatitis, pancreatic carcinoma and intraductal papillary mucinous neoplasms. Although several pancreatic benign and malignant tumours have been reported in association with type 1 neurofibromatosis, an association with gross pancreatic duct dilatation or ectasia has not been previously published. We report on a patient with type 1 neurofibromatosis found to have idiopathic gross pancreatic duct dilatation and exocrine insufficiency. A 51-year-old female with type 1 neurofibromatosis presented with weight loss and steatorrhoea. Computed tomography and magnetic resonance cholangiopancreatography showed a possible cystic lesion in the head of the pancreas, a grossly dilated main pancreatic duct and minimal thinned out pancreatic parenchyma. Endosonography confirmed diffuse dilatation of the pancreatic duct with no evidence of a separate cystic neoplasm. Endosonography-guided aspiration revealed non-mucinous, clear fluid with high amylase and normal carcinoembryonic antigen levels. The patient was prescribed pancreatic enzyme supplementation and showed symptomatic improvement. Associations between type 1 neurofibromatosis and pancreatic duct ectasia or chronic pancreatitis have not been reported, and this finding may be coincidental. Clinical presentation in conjunction with multimodal imaging and biochemical and cytological fluid analysis did not reveal the aetiology of the ectatic duct system and attenuated glandular tissue in this patient which is most likely congenital.
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Affiliation(s)
- Umesh Jayarajah
- Professorial Surgical Unit, National Hospital of Sri Lanka, Colombo, Sri Lanka.,Department of Surgery, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka
| | - Oshan Basnayake
- Professorial Surgical Unit, National Hospital of Sri Lanka, Colombo, Sri Lanka
| | | | - Nilesh Fernandopulle
- Department of Surgery, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka
| | - Sivasuriya Sivaganesh
- Department of Surgery, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka
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Limantoro I, Lee AF, Rosenbaum DG. Spectrum of bowel wall thickening on ultrasound with pathological correlation in children. Pediatr Radiol 2022; 52:1786-1798. [PMID: 35513727 PMCID: PMC9072154 DOI: 10.1007/s00247-022-05376-w] [Citation(s) in RCA: 3] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 10/22/2021] [Revised: 03/04/2022] [Accepted: 04/01/2022] [Indexed: 11/30/2022]
Abstract
Applications for bowel US in children have been well described; however, less focus has been placed on patterns of bowel wall architectural change in specific disease states. This pictorial essay reviews normal bowel wall architecture and covers a variety of inflammatory, infectious, vascular and neoplastic disorders outside the neonatal period as seen on US, with illustrative pathological correlation. A thorough understanding of normal and abnormal bowel wall architecture can enrich sonographic interpretation and provide a valuable adjunct to appropriate clinical investigation.
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Affiliation(s)
- Ione Limantoro
- Department of Radiology, British Columbia Children’s Hospital, University of British Columbia, 4500 Oak St., Vancouver, BC V6H 3N1 Canada
| | - Anna F. Lee
- Department of Pathology and Laboratory Medicine, British Columbia Children’s Hospital, University of British Columbia, Vancouver, BC Canada
| | - Daniel G. Rosenbaum
- Department of Radiology, British Columbia Children’s Hospital, University of British Columbia, 4500 Oak St., Vancouver, BC V6H 3N1 Canada
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Koffi GM, Mahassadi A, Koui S, Soro KG. Gastrointestinal Stromal Tumor Associated with Neurofibromatosis Type 1 Simulating a Neurofibrosarcoma in a Black African Adult Patient. Case Rep Gastroenterol 2021; 15:832-837. [PMID: 34720831 PMCID: PMC8543328 DOI: 10.1159/000518290] [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: 03/29/2021] [Accepted: 07/01/2021] [Indexed: 12/02/2022] Open
Abstract
Gastrointestinal stromal tumor (GIST) is the most prevalent mesenchymal tumor encountered in patients with neurofibromatosis type I (NF1). This association is rarely reported in black African adult patients. Clinical signs such as abdominal pain, intestinal bleeding, and palpable abdominal nodules may contribute to the diagnosis of GIST. However, these clinical signs may also indicate the presence of other solid intestinal tumors such as a neurofibrosarcoma which is an intestinal complication of NF1. The immunohistochemistry staining of the resected tissue is mandatory that allows establishing a correct diagnostic of GIST. The immunohistochemistry is also a challenging method in African countries with limited resources. Herein, we report a case of multiple intestinal involvement of GIST associated with NF1 revealed by a recurrent intestinal bleeding in a black African adult patient. The GIST diagnosis was suspected on a computed tomography scan images and laparotomy findings, which were confirmed by histopathological and immunochemistry examinations of the resected nodules. The immunohistochemistry staining of the tissue was positive for CD34 and CD117 indicating the presence of GIST in black African patient with NF1. The surgical treatment was consisted of a double intestinal resection with anastomosis that removed all palpable nodules located on the intestinal antimesenteric wall. No additional chemotherapy was administered to the patient who is so far under follow-up. The patient has not presented any episode of intestinal bleeding since the surgical treatment. We emphasize in this case report the importance of a recurrent intestinal bleeding in patient with NF1 that may indicate the presence of GIST and, the need of performing a large intestinal resection, as the most valuable treatment in limited resource countries.
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Affiliation(s)
- Gnangoran Marcellin Koffi
- Department of Visceral surgery, Faculty of Medicine, Felix Houphouet Boigny University, Yopougon Teaching Hospital, Abidjan, Ivory Coast
| | - Alassan Mahassadi
- Department of Gastroenterology, Felix Houphouet Boigny University, Yopougon Teaching Hospital, Abidjan, Ivory Coast
| | - Sylvanus Koui
- Department of Pathology, Felix Houphouet Boigny University, Treichville Teaching Hospital, Abidjan, Ivory Coast
| | - Kountele Gona Soro
- Department of Visceral surgery, Faculty of Medicine, Felix Houphouet Boigny University, Yopougon Teaching Hospital, Abidjan, Ivory Coast
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Zulfiqar M, Shetty A, Yano M, McGettigan M, Itani M, Naeem M, Ratts VS, Siegel CL. Imaging of the Vagina: Spectrum of Disease with Emphasis on MRI Appearance. Radiographics 2021; 41:1549-1568. [PMID: 34297630 DOI: 10.1148/rg.2021210018] [Citation(s) in RCA: 9] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/11/2022]
Abstract
The vagina is a median fibromuscular structure of the female reproductive system that extends from the vulva inferiorly to the uterine cervix superiorly. As most vaginal lesions are detected at gynecologic examination, imaging performed for nongynecologic indications can frequently cause concomitant vaginal pathologic conditions to be overlooked. The vagina is often underevaluated at routinely performed pelvic transvaginal US because of a narrow scan area and probe positioning. MRI has progressively become the imaging method of choice for vaginal pathologic conditions, as it provides excellent soft-tissue detail with unparalleled delineation of the complex pelvic floor anatomy and helps establish a diagnosis for most vaginal diseases. It is important that radiologists use a focused approach toward understanding and correctly recognizing different vaginal entities that may otherwise go unnoticed. In this case-based review, the authors discuss the key imaging features of wide-ranging vaginal pathologic conditions, with emphasis on appearance at MRI. Knowledge of vaginal anatomy and embryology is helpful in evaluating congenital anomalies at imaging. Often seen incidentally, vaginal inflammation can cause diagnostic confusion. Because of its central location in the pelvis, the vagina can form fistulas to the urinary bladder, colon, rectum, or anus. Vaginal masses can be neoplastic and nonneoplastic and include a myriad of benign and malignant conditions, some of which have characteristic imaging features. Therapeutic and nontherapeutic vaginal foreign bodies include pessaries, vaginal mesh, and packing that can be seen with or without associated complications. Online supplemental material is available for this article. ©RSNA, 2021.
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Affiliation(s)
- Maria Zulfiqar
- From the Mallinckrodt Institute of Radiology (M.Z., A.S., M.I., M.N., C.L.S.) and Department of Obstetrics and Gynecology (V.S.R.), Washington University School of Medicine, 510 S Kingshighway Blvd, St Louis, MO 63110; Department of Radiology, Mayo Clinic Arizona, Scottsdale, Ariz (M.Y.); Department of Diagnostic Imaging and Interventional Radiology, Moffitt Cancer Center, Tampa, Fla (M.M.); and Department of Oncologic Sciences, University of South Florida College of Medicine, Tampa, Fla (M.M.)
| | - Anup Shetty
- From the Mallinckrodt Institute of Radiology (M.Z., A.S., M.I., M.N., C.L.S.) and Department of Obstetrics and Gynecology (V.S.R.), Washington University School of Medicine, 510 S Kingshighway Blvd, St Louis, MO 63110; Department of Radiology, Mayo Clinic Arizona, Scottsdale, Ariz (M.Y.); Department of Diagnostic Imaging and Interventional Radiology, Moffitt Cancer Center, Tampa, Fla (M.M.); and Department of Oncologic Sciences, University of South Florida College of Medicine, Tampa, Fla (M.M.)
| | - Motoyo Yano
- From the Mallinckrodt Institute of Radiology (M.Z., A.S., M.I., M.N., C.L.S.) and Department of Obstetrics and Gynecology (V.S.R.), Washington University School of Medicine, 510 S Kingshighway Blvd, St Louis, MO 63110; Department of Radiology, Mayo Clinic Arizona, Scottsdale, Ariz (M.Y.); Department of Diagnostic Imaging and Interventional Radiology, Moffitt Cancer Center, Tampa, Fla (M.M.); and Department of Oncologic Sciences, University of South Florida College of Medicine, Tampa, Fla (M.M.)
| | - Melissa McGettigan
- From the Mallinckrodt Institute of Radiology (M.Z., A.S., M.I., M.N., C.L.S.) and Department of Obstetrics and Gynecology (V.S.R.), Washington University School of Medicine, 510 S Kingshighway Blvd, St Louis, MO 63110; Department of Radiology, Mayo Clinic Arizona, Scottsdale, Ariz (M.Y.); Department of Diagnostic Imaging and Interventional Radiology, Moffitt Cancer Center, Tampa, Fla (M.M.); and Department of Oncologic Sciences, University of South Florida College of Medicine, Tampa, Fla (M.M.)
| | - Malak Itani
- From the Mallinckrodt Institute of Radiology (M.Z., A.S., M.I., M.N., C.L.S.) and Department of Obstetrics and Gynecology (V.S.R.), Washington University School of Medicine, 510 S Kingshighway Blvd, St Louis, MO 63110; Department of Radiology, Mayo Clinic Arizona, Scottsdale, Ariz (M.Y.); Department of Diagnostic Imaging and Interventional Radiology, Moffitt Cancer Center, Tampa, Fla (M.M.); and Department of Oncologic Sciences, University of South Florida College of Medicine, Tampa, Fla (M.M.)
| | - Muhammad Naeem
- From the Mallinckrodt Institute of Radiology (M.Z., A.S., M.I., M.N., C.L.S.) and Department of Obstetrics and Gynecology (V.S.R.), Washington University School of Medicine, 510 S Kingshighway Blvd, St Louis, MO 63110; Department of Radiology, Mayo Clinic Arizona, Scottsdale, Ariz (M.Y.); Department of Diagnostic Imaging and Interventional Radiology, Moffitt Cancer Center, Tampa, Fla (M.M.); and Department of Oncologic Sciences, University of South Florida College of Medicine, Tampa, Fla (M.M.)
| | - Valerie S Ratts
- From the Mallinckrodt Institute of Radiology (M.Z., A.S., M.I., M.N., C.L.S.) and Department of Obstetrics and Gynecology (V.S.R.), Washington University School of Medicine, 510 S Kingshighway Blvd, St Louis, MO 63110; Department of Radiology, Mayo Clinic Arizona, Scottsdale, Ariz (M.Y.); Department of Diagnostic Imaging and Interventional Radiology, Moffitt Cancer Center, Tampa, Fla (M.M.); and Department of Oncologic Sciences, University of South Florida College of Medicine, Tampa, Fla (M.M.)
| | - Cary Lynn Siegel
- From the Mallinckrodt Institute of Radiology (M.Z., A.S., M.I., M.N., C.L.S.) and Department of Obstetrics and Gynecology (V.S.R.), Washington University School of Medicine, 510 S Kingshighway Blvd, St Louis, MO 63110; Department of Radiology, Mayo Clinic Arizona, Scottsdale, Ariz (M.Y.); Department of Diagnostic Imaging and Interventional Radiology, Moffitt Cancer Center, Tampa, Fla (M.M.); and Department of Oncologic Sciences, University of South Florida College of Medicine, Tampa, Fla (M.M.)
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Tortora S, Esposito A, Della Pepa G, Paternò M, Cagnoli GA, Cesaretti C, Natacci F, Carrafiello G. Neurofibromatosis Type 1 with Neck and Thoraco-Abdominal Involvement: A Case Series Showing Different Localization and MRI Features. REPORTS IN MEDICAL IMAGING 2021. [DOI: 10.2147/rmi.s300065] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/23/2022] Open
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Ait Ali H, Zeriouh B, Egyir Ebo U, Serji B, Elharroudi T. Solitary and complicated neurofibroma of small Bowel: A case report. Int J Surg Case Rep 2021; 78:126-129. [PMID: 33340979 PMCID: PMC7750123 DOI: 10.1016/j.ijscr.2020.12.020] [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: 11/12/2020] [Revised: 12/05/2020] [Accepted: 12/05/2020] [Indexed: 11/15/2022] Open
Abstract
INTRODUCTION Neurofibromatosis is a genetic disorder characterized by tumors and pigmentary changes on the skin, such as spots that color leans to 'White Coffee'. Neurofibromas of the gastrointestinal tract are commonly associated with neurofibromatosis type I (NF1). Although, digestive involvement can be the single manifestation of the disease and may consequently; represent the only diagnostic element. PRESENTATION OF CASE We report here; a case of a patient admitted to the emergency department with a bowel obstruction, for which radiological investigations revealed the presence of intussusception due to an intestinal tumor. The patient underwent a bowel resection with anastomosis, and then, after being examined histologically, the result has identified an intestinal neurofibroma without evidence of malignancy. Then and on the fourth day following the surgery, the patient was discharged with good clinical improvement. DISCUSSION The intestinal neurofibroma may be the first and the only manifestation of neurofibromatosis type I. Also, it's uncommon to present a neurofibroma isolated from the small bowel with an intussusception, which makes the pre-surgical diagnosis very difficult. And until now, only a few case reports of these conditions have been reported. CONCLUSION We report this uncommon clinical case of an isolated neurofibroma from the small bowel to raise awareness among the medical team about this exceptional pathology. Nevertheless, its risk of developing serious complications and malignant transformation led us to opt for earlier surgical treatment. Furthermore, it requires a close clinical follow-up to eliminate the neurofibromatosis type I or the multiple endocrine neoplasia type II.
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Affiliation(s)
- Hassane Ait Ali
- Department of Oncological Surgery, Mohamed VI University Hospital Center, Oujda, Morocco.
| | - Brahim Zeriouh
- Department of Oncological Surgery, Mohamed VI University Hospital Center, Oujda, Morocco
| | - Usman Egyir Ebo
- Department of Oncological Surgery, Mohamed VI University Hospital Center, Oujda, Morocco
| | - Badr Serji
- Department of Oncological Surgery, Mohamed VI University Hospital Center, Oujda, Morocco
| | - Tijani Elharroudi
- Department of Oncological Surgery, Mohamed VI University Hospital Center, Oujda, Morocco
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Duffy P, Castro-Aragon I, Tivnan P, Volberg FM, Kipervasser E, Harkanyi Z, Paltiel HJ. Spleen and Peritoneal Cavity. PEDIATRIC ULTRASOUND 2021:481-561. [DOI: 10.1007/978-3-030-56802-3_13] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 01/04/2025]
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Abstract
OBJECTIVE. Loss of the neurofibromatosis type 1 (NF1) tumor suppressor protein causes uninhibited activation of the RAS oncogene, which leads to tumorigenesis in patients with NF1. This case-based review discusses imaging manifestations of NF1 in the abdomen and pelvis, highlighting key genetic associations and management to elucidate features different from the general population. CONCLUSION. The spectrum of pathologic findings includes gastrointestinal tumors such as gastrointestinal stromal tumors, genitourinary lesions including urogenital neurofibromas, vascular entities such as renal artery stenosis, and less common associations like lymphoma.
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Dare AJ, Gupta AA, Thipphavong S, Miettinen M, Gladdy RA. Abdominal neoplastic manifestations of neurofibromatosis type 1. Neurooncol Adv 2020; 2:i124-i133. [PMID: 32642738 PMCID: PMC7317050 DOI: 10.1093/noajnl/vdaa032] [Citation(s) in RCA: 6] [Impact Index Per Article: 1.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/20/2022] Open
Abstract
Neurofibromatosis type 1 (NF1) is an autosomal dominant hereditary tumor syndrome, with a wide clinicopathologic spectrum. It is defined by characteristic central nervous system, cutaneous and osseous manifestations, and by mutations in the NF1 gene, which is involved in proliferation via p21, RAS, and MAP kinase pathways. Up to 25% of NF1 patients develop intra-abdominal neoplastic manifestations including neurogenic (commonly plexiform neurofibromas and malignant peripheral nerve sheath tumors), interstitial cells of Cajal (hyperplasia, gastrointestinal stromal tumors), neuroendocrine, and embryonal tumors (rhabdomyosarcoma). Nonspecific symptoms, multifocal disease, or coexistence of 2 or more tumor types make patients challenging to diagnose and manage. Screening for intra-abdominal tumors in NF1 patients remains controversial, and currently no guidelines are established. Management decisions are complex and often informed by single-center experiences or case studies in the literature, though the field is rapidly evolving. Thus, NF1 patients should be followed in specialist centers familiar with their wide spectrum of pathology and with multidisciplinary care including specialized pathology and radiology. This review will (1) provide a contemporaneous synthesis of the literature and our multi-institutional clinical experiences with intra-abdominal neoplasms in NF1 patients, (2) present a classification framework for this heterogeneous group of disorders, and (3) outline approaches to screening, surveillance, diagnosis, and management.
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Affiliation(s)
- Anna J Dare
- Department of Surgery, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada
| | - Abha A Gupta
- Division of Pediatric Hematology/Oncology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.,Department of Medical Oncology, Princess Margaret Cancer Centre, Toronto, Ontario, Canada
| | - Seng Thipphavong
- Department of Medical Imaging, Women's College Hospital, Toronto, Ontario, Canada
| | - Markku Miettinen
- Laboratory of Pathology, National Cancer Institute/Center for Cancer Research, Bethesda, Maryland, USA
| | - Rebecca A Gladdy
- Department of Surgery, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.,Department of Surgical Oncology, Princess Margaret Hospital, Toronto, Ontario, Canada
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Ghoneim S, Sandhu S, Sandhu D. Isolated colonic neurofibroma, a rare tumor: A case report and review of literature. World J Clin Cases 2020; 8:1932-1938. [PMID: 32518783 PMCID: PMC7262705 DOI: 10.12998/wjcc.v8.i10.1932] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/31/2020] [Revised: 04/24/2020] [Accepted: 04/27/2020] [Indexed: 02/05/2023] Open
Abstract
BACKGROUND Neurofibromas are tumors comprised of peripheral nerve sheath and connective tissue components. They can occur sporadically or as part of familial syndromes such as neurofibromatosis type 1. Isolated colonic neurofibroma without systemic manifestations is a rarely reported clinical entity. Here we present a case of a 51 years old male with an isolated colonic neurofibroma seen on a screening colonoscopy. CASE SUMMARY Fifty-one years old male who was otherwise healthy without a significant family history of cancer underwent a screening colonoscopy and was found have a 2.3 cm × 1.4 cm lesion in the colon. Tissue biopsy revealed a spindle cell tumor. Magnetic resonance imaging of the pelvis was negative for adenopathy. He underwent an endoscopic ultrasound that showed an ill-defined avascular lesion of mixed echogenicity measuring 2.8 cm × 15.2 cm in the submucosa with no communication with muscularis mucosa or propria. Immunohistochemistry staining of the tumor was strongly positive for S100, with rare penetrating axons deep within the tumor. Tumor cells were negative for c-kit and desmin and had low Ki-67 index. These findings were consistent with a solitary colonic submucosal neurofibroma. A detailed history and physical examination did not reveal any evidence of extraintestinal neurofibromatosis. He underwent transanal surgical resection of the tumor. The patient tolerated the procedure well without any complications. CONCLUSION While neurofibromas have been well described in literature, an isolated colonic neurofibroma is a rare pathological entity. Malignant transformation of neurofibromas has been reported in patients with neurofibromatosis syndromes. We report a case of isolated colonic neurofibroma and highlight the importance of resection due to the increased risk of tumorigenesis.
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Affiliation(s)
- Sara Ghoneim
- Department of Internal Medicine, Case Western Reserve University at MetroHealth Medical Center, Cleveland, OH 44109, United States
| | - Sonia Sandhu
- Department of Hematology and Oncology, Cleveland Clinic Akron General, Cleveland, OH 44307, United States
| | - Dalbir Sandhu
- Division of Gastroenterology, Case Western Reserve University at MetroHealth Medical Center, Cleveland, OH 44109, United States
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15
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Ballard DH, Mazaheri P, Oppenheimer DC, Lubner MG, Menias CO, Pickhardt PJ, Middleton WD, Mellnick VM. Imaging of Abdominal Wall Masses, Masslike Lesions, and Diffuse Processes. Radiographics 2020; 40:684-706. [PMID: 32330085 DOI: 10.1148/rg.2020190170] [Citation(s) in RCA: 23] [Impact Index Per Article: 4.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/16/2022]
Abstract
Abdominal wall masses, masslike lesions, and diffuse processes are common and often incidental findings at cross-sectional imaging. Distinguishing among these types of masses on the basis of imaging features alone can be challenging. The authors present a diagnostic algorithm that may help in distinguishing different types of abdominal wall masses accurately. Hernias may mimic discrete masses at clinical examination, and imaging is often ordered for evaluation of a possible abdominal wall mass. Once a discrete mass is confirmed to be present, the next step is to determine if it is a fat-containing, cystic, or solid mass. The most common fat-containing masses are lipomas. Fluid or cystic masses include postoperative abscesses, seromas, and rectus sheath hematomas. Solid masses are the most common abdominal wall masses and include desmoid tumors, sarcomas, endometriomas, and metastases. Multiple masses and other diffuse abdominal wall processes are often manifestations of an underlying condition or insult. The most frequently found diffuse processes are multiple injection granulomas from administration of subcutaneous medication. This article offers an algorithmic approach to characterizing abdominal wall masses on the basis of their composition and reviews abdominal wall diffuse processes. Online supplemental material is available for this article. ©RSNA, 2020.
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Affiliation(s)
- David H Ballard
- From the Mallinckrodt Institute of Radiology, Washington University School of Medicine, 510 S Kingshighway Blvd, Campus Box 8131, St Louis, MO 63110 (D.H.B., P.M., W.D.M., V.M.M.); Department of Imaging Sciences, University of Rochester Medical Center, Rochester, NY (D.C.O.); Department of Radiology, University of Wisconsin School of Medicine and Public Health, Madison, Wis (M.G.L., P.J.P.); and Department of Radiology, Mayo Clinic Scottsdale, Scottsdale, Ariz (C.O.M.)
| | - Parisa Mazaheri
- From the Mallinckrodt Institute of Radiology, Washington University School of Medicine, 510 S Kingshighway Blvd, Campus Box 8131, St Louis, MO 63110 (D.H.B., P.M., W.D.M., V.M.M.); Department of Imaging Sciences, University of Rochester Medical Center, Rochester, NY (D.C.O.); Department of Radiology, University of Wisconsin School of Medicine and Public Health, Madison, Wis (M.G.L., P.J.P.); and Department of Radiology, Mayo Clinic Scottsdale, Scottsdale, Ariz (C.O.M.)
| | - Daniel C Oppenheimer
- From the Mallinckrodt Institute of Radiology, Washington University School of Medicine, 510 S Kingshighway Blvd, Campus Box 8131, St Louis, MO 63110 (D.H.B., P.M., W.D.M., V.M.M.); Department of Imaging Sciences, University of Rochester Medical Center, Rochester, NY (D.C.O.); Department of Radiology, University of Wisconsin School of Medicine and Public Health, Madison, Wis (M.G.L., P.J.P.); and Department of Radiology, Mayo Clinic Scottsdale, Scottsdale, Ariz (C.O.M.)
| | - Meghan G Lubner
- From the Mallinckrodt Institute of Radiology, Washington University School of Medicine, 510 S Kingshighway Blvd, Campus Box 8131, St Louis, MO 63110 (D.H.B., P.M., W.D.M., V.M.M.); Department of Imaging Sciences, University of Rochester Medical Center, Rochester, NY (D.C.O.); Department of Radiology, University of Wisconsin School of Medicine and Public Health, Madison, Wis (M.G.L., P.J.P.); and Department of Radiology, Mayo Clinic Scottsdale, Scottsdale, Ariz (C.O.M.)
| | - Christine O Menias
- From the Mallinckrodt Institute of Radiology, Washington University School of Medicine, 510 S Kingshighway Blvd, Campus Box 8131, St Louis, MO 63110 (D.H.B., P.M., W.D.M., V.M.M.); Department of Imaging Sciences, University of Rochester Medical Center, Rochester, NY (D.C.O.); Department of Radiology, University of Wisconsin School of Medicine and Public Health, Madison, Wis (M.G.L., P.J.P.); and Department of Radiology, Mayo Clinic Scottsdale, Scottsdale, Ariz (C.O.M.)
| | - Perry J Pickhardt
- From the Mallinckrodt Institute of Radiology, Washington University School of Medicine, 510 S Kingshighway Blvd, Campus Box 8131, St Louis, MO 63110 (D.H.B., P.M., W.D.M., V.M.M.); Department of Imaging Sciences, University of Rochester Medical Center, Rochester, NY (D.C.O.); Department of Radiology, University of Wisconsin School of Medicine and Public Health, Madison, Wis (M.G.L., P.J.P.); and Department of Radiology, Mayo Clinic Scottsdale, Scottsdale, Ariz (C.O.M.)
| | - William D Middleton
- From the Mallinckrodt Institute of Radiology, Washington University School of Medicine, 510 S Kingshighway Blvd, Campus Box 8131, St Louis, MO 63110 (D.H.B., P.M., W.D.M., V.M.M.); Department of Imaging Sciences, University of Rochester Medical Center, Rochester, NY (D.C.O.); Department of Radiology, University of Wisconsin School of Medicine and Public Health, Madison, Wis (M.G.L., P.J.P.); and Department of Radiology, Mayo Clinic Scottsdale, Scottsdale, Ariz (C.O.M.)
| | - Vincent M Mellnick
- From the Mallinckrodt Institute of Radiology, Washington University School of Medicine, 510 S Kingshighway Blvd, Campus Box 8131, St Louis, MO 63110 (D.H.B., P.M., W.D.M., V.M.M.); Department of Imaging Sciences, University of Rochester Medical Center, Rochester, NY (D.C.O.); Department of Radiology, University of Wisconsin School of Medicine and Public Health, Madison, Wis (M.G.L., P.J.P.); and Department of Radiology, Mayo Clinic Scottsdale, Scottsdale, Ariz (C.O.M.)
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16
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Hastings B, Mortele K, Lee EY. Genetic Syndromes Affecting Both Children and Adults: A Practical Guide to Imaging-based Diagnosis, Management, and Screening Recommendations for General Radiologists. Radiol Clin North Am 2020; 58:619-638. [PMID: 32276707 DOI: 10.1016/j.rcl.2020.01.003] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/25/2022]
Abstract
Genetic syndromes are an infrequently encountered but challenging group of conditions for both pediatric and adult radiologists given the multitude of possible findings and important complications associated with these syndromes. This article reviews characteristic syndromic imaging features, as well as discussing important complications and screening recommendations for a selected group of clinically relevant genetic syndromes affecting both pediatric and adult populations.
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Affiliation(s)
- Bradford Hastings
- Department of Radiology, Beth Israel Deaconess Medical Center, Harvard Medical School, 330 Brookline Avenue, Boston, MA 02215, USA
| | | | - Edward Y Lee
- Division of Thoracic Imaging, Department of Radiology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA.
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17
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Atkins NK, Stensby JD, Gaballah AH. Lumbosacral plexiform neurofibroma: a rare case in an adult without neurofibromatosis type I. Skeletal Radiol 2020; 49:321-330. [PMID: 31342092 DOI: 10.1007/s00256-019-03281-2] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/08/2019] [Revised: 06/06/2019] [Accepted: 07/08/2019] [Indexed: 02/02/2023]
Abstract
Plexiform neurofibromas are an uncommon variant of neurofibromas that are described as being essentially pathognomonic of neurofibromatosis type 1 (NF1). Plexiform neurofibromas in the absence of NF1 are extremely rare. We present the case of a 38-year-old woman with a large multilobulated lumbosacral mass extending into the pelvis and proximal thigh. Histopathology of a CT-guided biopsy of the mass revealed it to be a neurofibroma. The imaging findings were consistent with a plexiform subtype. Further imaging and clinical workup showed that the patient had no other identifiable neurofibromas and did not meet criteria for the diagnosis of NF1.
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Affiliation(s)
- Naomi K Atkins
- Department of Radiology, University of Missouri, Columbia, MO, USA.
| | - J Derek Stensby
- Department of Radiology, University of Missouri, Columbia, MO, USA
| | - Ayman H Gaballah
- Department of Radiology, University of Missouri, Columbia, MO, USA
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18
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Park SJ, Kim YH, Kang UR, Ji SW. Transcatheter Arterial Embolization of a Ruptured Superior Rectal Artery Aneurysm in Type 1 Neurofibromatosis: A Case Report. JOURNAL OF THE KOREAN SOCIETY OF RADIOLOGY 2020; 81:726-732. [PMID: 36238611 PMCID: PMC9431908 DOI: 10.3348/jksr.2020.81.3.726] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 06/05/2019] [Revised: 08/13/2019] [Accepted: 08/15/2019] [Indexed: 11/25/2022]
Abstract
신경섬유종증 1형은 상염색체우성질환으로 가장 흔한 유전 질환 중 하나이다. 혈관병증은 드물게 발생할 수 있으며, 신경섬유종증 1형 혈관병증은 동맥류, 협착, 동정맥기형의 형태로 나타난다. 동맥류의 경우 자연파열과 같은 치명적인 합병증을 유발할 수 있다. 신경섬유종증 1형과 연관된 하장간막동맥류의 파열로 인한 장간막출혈은 매우 드물게 보고되고 있다. 이에 저자들은 신경섬유종증 1형에 의한 방추형 상직장동맥류의 자발적 파열로 내원한 56세 여성환자에서 코일을 이용한 경도관 동맥 색전술을 시행하여 성공적으로 치료한 1예를 경험하였기에 이를 보고하고자 한다.
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Affiliation(s)
- Se Jin Park
- Department of Radiology, Daegu Catholic University College of Medicine, Daegu, Korea
| | - Young Hwan Kim
- Department of Radiology, Daegu Catholic University College of Medicine, Daegu, Korea
| | - Ung Rae Kang
- Department of Radiology, Daegu Catholic University College of Medicine, Daegu, Korea
| | - Seung Woo Ji
- Department of Radiology, CHA Gumi Medical Center, CHA University, Gumi, Korea
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19
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Park EK, Kim HJ, Lee YH, Koh YS, Hur YH, Cho CK. Synchronous Gastrointestinal Stromal Tumor and Ampullary Neuroendocrine Tumor in Association with Neurofibromatosis Type 1: A Report of Three Cases. THE KOREAN JOURNAL OF GASTROENTEROLOGY 2019; 74:227-231. [PMID: 31650799 DOI: 10.4166/kjg.2019.74.4.227] [Citation(s) in RCA: 6] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Subscribe] [Scholar Register] [Received: 07/10/2019] [Revised: 08/02/2019] [Accepted: 08/05/2019] [Indexed: 11/03/2022]
Abstract
Neurofibromatosis type 1 (NF1) is an autosomal dominant hereditary disorder. The pathogenesis of NF1 is suggested to be an alteration of the NF-1 gene, which normally functions as a tumor suppressor. A mutation of NF-1 causes the development of viable tumors in various sites. On the other hand, the synchronous manifestation of a gastrointestinal stromal tumor (GIST) and neuroendocrine tumor (NET) in the background of NF1 is extremely rare. This paper reports three cases treated with surgical intervention along with the long-term follow-up results. Three patients showed synchronous ampullary NET and GIST in association with NF1 supported by postoperative histopathologic analysis. Surgical treatments, such as pancreatoduodenectomy and local excision were applied. No recurrence occurred during the postoperative follow-up period of 10, 9, and 2.7 years. Synchronous GIST and NET in the background of NF1 is extremely rare, but the possible coexistence of other tumors in NF1 patients is relatively higher than that in the general population. Furthermore, both NETs and GISTs occurring in NF1 patients tend to be smaller in size compared to that in the general population. Therefore, when NF1 patients present with vague abdominal discomfort, close attention must be paid to identifying the coexistence of other neoplasms.
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Affiliation(s)
- Eun Kyu Park
- Department of Surgery, Chonnam National University Hospital, Gwangju, Korea
| | - Hee Joon Kim
- Department of Surgery, Chonnam National University Hospital, Gwangju, Korea
| | - Yun Ho Lee
- Department of Surgery, Chonnam National University Hospital, Gwangju, Korea
| | - Yang Seok Koh
- Department of Surgery, Chonnam National University Hwasun Hospital, Chonnam National University Medical School, Hwasun, Korea
| | - Young Hoe Hur
- Department of Surgery, Chonnam National University Hwasun Hospital, Chonnam National University Medical School, Hwasun, Korea
| | - Chol Kyoon Cho
- Department of Surgery, Chonnam National University Hwasun Hospital, Chonnam National University Medical School, Hwasun, Korea
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20
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Kokkinou E, Roka K, Alexopoulos A, Tsina E, Nikas I, Krallis P, Thanopoulou I, Nasi L, Makrygianni E, Tsoutsou E, Kosma K, Tsipi M, Tzetis M, Frysira H, Kattamis A, Pons R. Development of a multidisciplinary clinic of neurofibromatosis type 1 and other neurocutaneous disorders in Greece. A 3-year experience. Postgrad Med 2019; 131:445-452. [PMID: 31443616 DOI: 10.1080/00325481.2019.1659708] [Citation(s) in RCA: 9] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/25/2023]
Abstract
Given the complexity of neurocutaneous syndromes, a multidisciplinary approach has been advocated in order to provide optimum care. Subjects and Methods: Retrospective analysis of a cohort of 157 patients during a 3-year period, seen at a newly developed neurocutaneous clinic in a pediatric tertiary care hospital in Athens (Greece); and systematic chart review of the patients diagnosed with neurofibromatosis type 1 during this time period. Results: The most frequent neurocutaneous syndromes were neurofibromatosis type 1 (NF1) in 89 patients and tuberous sclerosis complex in 17. In 20.38% of patients a neurocutaneous syndrome was not confirmed. Approximately 2/3 of the NF1 patients underwent genetic analysis, and for 76.67% of them, a pathogenic mutation on the NF1 gene was revealed. Eighty-one patients manifested with generalized NF1 and eight with mosaic NF1. Dermatological manifestations included café-au-lait macules in all patients, followed by axillary and/or inguinal freckling (n = 57), external plexiform neurofibromas (n = 17), and cutaneous and subcutaneous neurofibromas (n = 11). Approximately half of patients had learning disabilities and attention deficit hyperactivity disorder, followed by mental retardation (n = 9), autistic spectrum disorders (n = 4), headaches (n = 3) and seizures (n = 2). Neuroimaging showed characteristic areas of hyperintensity on T2-weighted images in 74.07% of patients and optic pathway glioma in 19.75%. Two patients developed malignant peripheral sheath nerve tumor. Conclusions: Neurocutaneous syndromes are clinically heterogeneous and the surveillance of potential clinical complications is challenging. The availability of genetic diagnosis and novel imaging methods in this group of disorders is likely to further expand their clinical spectrum. Guidelines for assessment and management will need to be modified based on new available data.
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Affiliation(s)
- Eleftheria Kokkinou
- Special Unit of Pediatric Neurology, First Department of Pediatrics, National and Kapodistrian University of Athens Medical School, Agia Sofia Children's Hospital , Athens , Greece
| | - Kleoniki Roka
- Division of Pediatric Hematology-Oncology, First Department of Pediatrics, National and Kapodistrian University of Athens Medical School, Agia Sofia Children's Hospital , Athens , Greece
| | - Alexis Alexopoulos
- Special Unit of Dermatology, First Department of Pediatrics, National and Kapodistrian University of Athens Medical School, Agia Sofia Children's Hospital , Athens , Greece
| | - Efthymia Tsina
- Department of Ophthalmology, Agia Sofia Children's Hospital , Athens , Greece
| | - Ioannis Nikas
- Department of Radiology, Agia Sofia Children's Hospital , Athens , Greece
| | - Panagiotis Krallis
- Department of Orthopaedics, Agia Sofia Children's Hospital , Athens , Greece
| | - Ioanna Thanopoulou
- Special Unit of Dermatology, First Department of Pediatrics, National and Kapodistrian University of Athens Medical School, Agia Sofia Children's Hospital , Athens , Greece
| | - Lambrini Nasi
- Special Unit of Dermatology, First Department of Pediatrics, National and Kapodistrian University of Athens Medical School, Agia Sofia Children's Hospital , Athens , Greece
| | - Evanthia Makrygianni
- Special Unit of Pediatric Neurology, First Department of Pediatrics, National and Kapodistrian University of Athens Medical School, Agia Sofia Children's Hospital , Athens , Greece
| | - Eirini Tsoutsou
- Department of Medical Genetics, Choremio Research Laboratory, National and Kapodistrian University of Athens Medical School, Agia Sofia Children's Hospital , Athens , Greece
| | - Konstantina Kosma
- Department of Medical Genetics, Choremio Research Laboratory, National and Kapodistrian University of Athens Medical School, Agia Sofia Children's Hospital , Athens , Greece
| | - Maria Tsipi
- Department of Medical Genetics, Choremio Research Laboratory, National and Kapodistrian University of Athens Medical School, Agia Sofia Children's Hospital , Athens , Greece
| | - Maria Tzetis
- Department of Medical Genetics, Choremio Research Laboratory, National and Kapodistrian University of Athens Medical School, Agia Sofia Children's Hospital , Athens , Greece
| | - Helen Frysira
- Department of Medical Genetics, Choremio Research Laboratory, National and Kapodistrian University of Athens Medical School, Agia Sofia Children's Hospital , Athens , Greece
| | - Antonis Kattamis
- Division of Pediatric Hematology-Oncology, First Department of Pediatrics, National and Kapodistrian University of Athens Medical School, Agia Sofia Children's Hospital , Athens , Greece
| | - Roser Pons
- Special Unit of Pediatric Neurology, First Department of Pediatrics, National and Kapodistrian University of Athens Medical School, Agia Sofia Children's Hospital , Athens , Greece
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21
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Gandhi V, Gautam P, Chharchhodawala T, Pai N. Recurrent gastrointestinal bleeding in a patient with type 1 neurofibromatosis. BMJ Case Rep 2019; 12:12/6/e226303. [PMID: 31164378 DOI: 10.1136/bcr-2018-226303] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/04/2022] Open
Abstract
Type 1 neurofibromatosis (NF1) is a hereditary disorder with an incidence of approximately 1:3000 at birth. Gastrointestinal (GI) lesions occur in approximately one-third of the patients, with most being asymptomatic and diagnosed incidentally. Symptomatic lesions leading to GI bleeding are uncommon. We share our experience of an elderly man with NF1, who presented with massive recurrent GI bleeding secondary to jejunal neurofibromas. The lesions were identified on CT scan of abdomen, and the patient was managed with resection of the involved bowel segment.
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Affiliation(s)
| | - Pratik Gautam
- Gastrointestinal and HPB Surgery, Ruby Hall Clinic, Pune, Maharashtra, India
| | | | - Nitin Pai
- Medical Gastroenterology, Ruby Hall Clinic, Pune, Maharashtra, India
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22
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Kundu R, Gupta S, Kaushik R, Punia RS, Kaur R. Isolated giant ileal neurofibroma sans neurofibromatosis. Indian J Cancer 2019; 55:301-303. [PMID: 30693899 DOI: 10.4103/ijc.ijc_121_18] [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] [Indexed: 11/04/2022]
Abstract
Neurofibromas are benign neoplasms that are usually seen in hereditary disorders such as von Recklinghausen's disease [neurofibromatosis type 1 (NF1)]. The occurrence of isolated ileal neurofibroma in patients without the classic manifestations of NF1 or multiple endocrine neoplasia (MEN) syndromes is an extremely rare entity . We report one such case of isolated ileal neurofibroma in a 60 year old woman without any other stigmata of NF. It may be the initial manifestation of NF1 or MEN 2b or malignant transformation, all of which necessitate further follow-up of these patients.
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Affiliation(s)
- Reetu Kundu
- Department of Pathology, Government Medical College and Hospital, Chandigarh, India
| | - Sanjay Gupta
- Department of General Surgery, Government Medical College and Hospital, Chandigarh, India
| | - Robin Kaushik
- Department of General Surgery, Government Medical College and Hospital, Chandigarh, India
| | - Rajpal Singh Punia
- Department of Pathology, Government Medical College and Hospital, Chandigarh, India
| | - Ravinder Kaur
- Department of Radiodiagnosis, Government Medical College and Hospital, Chandigarh, India
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23
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Garrouche N, Ben Abdallah A, Arifa N, Hasni I, Ben Cheikh Y, Ben Farhat W, Ben Amor S, Jemni H. Spectrum of gastrointestinal lesions of neurofibromatosis type 1: a pictorial review. Insights Imaging 2018; 9:661-671. [PMID: 30187267 PMCID: PMC6206377 DOI: 10.1007/s13244-018-0648-8] [Citation(s) in RCA: 12] [Impact Index Per Article: 1.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/08/2018] [Revised: 06/27/2018] [Accepted: 07/04/2018] [Indexed: 02/07/2023] Open
Abstract
Abstract Neurofibromatosis type 1 (NF1) is one of the most common genetic disorders. Gastrointestinal manifestations of NF-1 are seldom thought of in routine clinical practice and might thus be significantly under-recognised. Their heterogeneous spectrum ranges from localised microscopic proliferative lesions to grossly recognizable mass-forming neurofibromas, neuroendocrine and gastrointestinal stromal tumours (GIST). The aim of this study is discussing the imaging evaluation and characterisation of the abdomen lesions in patients with NF1. Teaching Points • Neurofibromatosis type (NF-1) is one of the most common single gene disorders. • Every organ system can be involved and intra-abdominal manifestations are underestimated. • The NF1 abdominal manifestations comprehend five categories of tumours. • Neurogenic tumours including with neurofibromas are the most common type. • Early diagnosis of abdominal manifestations of NF-1 based on imaging patterns is necessary for appropriate treatment to avoid serious organic complications related to tumour mass.
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Affiliation(s)
- Nada Garrouche
- Radiology Department, Sahloul University Hospital, Sousse, Tunisia.
| | | | - Nadia Arifa
- Radiology Department, Sahloul University Hospital, Sousse, Tunisia
| | - Ibtissem Hasni
- Radiology Department, Sahloul University Hospital, Sousse, Tunisia
| | | | - Waad Ben Farhat
- General Surgery Department, Sahloul University Hospital, Sousse, Tunisia
| | - Sana Ben Amor
- Neurology Department, Sahloul University Hospital, Sousse, Tunisia
| | - Hela Jemni
- Radiology Department, Sahloul University Hospital, Sousse, Tunisia
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24
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Marko J, Wolfman DJ. Retroperitoneal Leiomyosarcoma From the Radiologic Pathology Archives. Radiographics 2018; 38:1403-1420. [PMID: 30207936 PMCID: PMC6166742 DOI: 10.1148/rg.2018180006] [Citation(s) in RCA: 32] [Impact Index Per Article: 4.6] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/01/2018] [Revised: 04/21/2018] [Accepted: 04/26/2018] [Indexed: 12/28/2022]
Abstract
Leiomyosarcoma is a malignant neoplasm that shows smooth muscle differentiation. It is the second most common sarcoma to affect the retroperitoneum. Retroperitoneal leiomyosarcomas may grow to large sizes before detection and may be an incidental finding at imaging. When symptomatic, retroperitoneal leiomyosarcoma may cause compressive symptoms, including pain. Retroperitoneal leiomyosarcoma most commonly manifests as a large soft-tissue mass, with areas of necrosis. The most frequent pattern of growth is an entirely extravascular mass. Less commonly, leiomyosarcoma may demonstrate both extravascular and intravascular components. Rarely, retroperitoneal leiomyosarcomas are completely intravascular, typically arising from the inferior vena cava. Given its variable imaging features, a large variety of neoplastic and nonneoplastic conditions are included in the differential diagnosis of retroperitoneal leiomyosarcoma. In this review, the authors discuss retroperitoneal leiomyosarcoma, with emphasis on the pathologic basis of disease, and illustrate the multimodality imaging appearances of retroperitoneal leiomyosarcoma using cases from the Radiologic Pathology Archives of the American Institute for Radiologic Pathology. The authors review important differential considerations of retroperitoneal leiomyosarcoma, focusing on the extravascular pattern of growth, and emphasize clinical and imaging features that help radiologists differentiate leiomyosarcoma from the most frequent mimics. The information presented in this review will aid radiologists in fulfilling their key roles in the diagnosis, operative planning, and follow-up of patients with retroperitoneal leiomyosarcoma.
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Affiliation(s)
- Jamie Marko
- From the Department of Radiology and Imaging Sciences, National Institutes of Health, Bethesda, Md (J.M.); American Institute for Radiologic Pathology, 1100 Wayne Ave, Suite 1020, Silver Spring, MD 20910 (J.M., D.J.W.); and Community Radiology Division, Johns Hopkins School of Medicine, Washington, DC (D.J.W.)
| | - Darcy J. Wolfman
- From the Department of Radiology and Imaging Sciences, National Institutes of Health, Bethesda, Md (J.M.); American Institute for Radiologic Pathology, 1100 Wayne Ave, Suite 1020, Silver Spring, MD 20910 (J.M., D.J.W.); and Community Radiology Division, Johns Hopkins School of Medicine, Washington, DC (D.J.W.)
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Judit Machnitz A, Reid JR, Acord MR, Khwaja AB, Biko DM, Ayyala RS, Anupindi SA. MRI of the bowel - beyond inflammatory bowel disease. Pediatr Radiol 2018; 48:1280-1290. [PMID: 30078046 DOI: 10.1007/s00247-018-4166-0] [Citation(s) in RCA: 8] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/12/2018] [Revised: 04/20/2018] [Accepted: 05/22/2018] [Indexed: 02/06/2023]
Abstract
MR enterography is traditionally used to evaluate inflammatory bowel disease (IBD) both at initial presentation and at follow-up. MR enterography can also be used to evaluate non-IBD conditions such as polyps or other masses of the gastrointestinal tract. In this article, we emphasize how to recognize bowel conditions beyond IBD on conventional abdominal MRI without a specific enterographic technique. In this overview we discuss common and uncommon pediatric bowel conditions beyond IBD seen on MRI including infectious and inflammatory conditions, congenital diseases and tumor and tumor-like conditions. Radiologists should become familiar with the salient imaging features of these bowel conditions to help guide management.
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Affiliation(s)
- A Judit Machnitz
- Department of Radiology, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, 34th Street and Civic Center Boulevard, Philadelphia, PA, 19104, USA
| | - Janet R Reid
- Department of Radiology, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, 34th Street and Civic Center Boulevard, Philadelphia, PA, 19104, USA
| | - Michael R Acord
- Department of Radiology, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, 34th Street and Civic Center Boulevard, Philadelphia, PA, 19104, USA
| | - Asef B Khwaja
- Department of Radiology, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, 34th Street and Civic Center Boulevard, Philadelphia, PA, 19104, USA
| | - David M Biko
- Department of Radiology, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, 34th Street and Civic Center Boulevard, Philadelphia, PA, 19104, USA
| | - Rama S Ayyala
- Department of Radiology, Morgan Stanley Children's Hospital, New York Presbyterian, Columbia School of Medicine, New York, NY, USA.,Department of Diagnostic Imaging, Rhode Island Hospital - Hasbro Children's Hospital, Warren Alpert Medical School of Brown University, Providence, RI, USA
| | - Sudha A Anupindi
- Department of Radiology, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, 34th Street and Civic Center Boulevard, Philadelphia, PA, 19104, USA.
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Hammami A, Hasnaoui B, Guerfala M, Mabrouk MB, Farhat W, Ksiaa M, Jaziri H, Elleuch N, Brahem A, Ajmi S, Ali AB, Sriha B, Slama AB, Jmaa A. Gastrointestinal stromal tumor (GIST) inpatient with Von Recklinghausen's disease. Presse Med 2018; 47:404-408. [PMID: 29588106 DOI: 10.1016/j.lpm.2018.02.008] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/16/2017] [Revised: 01/16/2018] [Accepted: 02/19/2018] [Indexed: 10/17/2022] Open
Affiliation(s)
- Aya Hammami
- Departement of Gastroenterology, Sahloul City, Tunisia.
| | | | | | | | - Waad Farhat
- Departement of Surgery, Sahloul City, Tunisia
| | - Mehdi Ksiaa
- Departement of Gastroenterology, Sahloul City, Tunisia
| | - Hanen Jaziri
- Departement of Gastroenterology, Sahloul City, Tunisia
| | - Nour Elleuch
- Departement of Gastroenterology, Sahloul City, Tunisia
| | - Ahlem Brahem
- Departement of Gastroenterology, Sahloul City, Tunisia
| | - Salem Ajmi
- Departement of Gastroenterology, Sahloul City, Tunisia
| | - Ali Ben Ali
- Departement of Surgery, Sahloul City, Tunisia
| | | | | | - Ali Jmaa
- Departement of Gastroenterology, Sahloul City, Tunisia
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McCarthy AJ, Karamchandani DM, Chetty R. Neural and neurogenic tumours of the gastroenteropancreaticobiliary tract. J Clin Pathol 2018; 71:565-578. [PMID: 29419412 DOI: 10.1136/jclinpath-2017-204895] [Citation(s) in RCA: 7] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/06/2017] [Revised: 01/12/2018] [Accepted: 01/13/2018] [Indexed: 12/11/2022]
Abstract
Neural lesions occur uncommonly in the gastroenteropancreaticobiliary tract. However, due to the growing number of screening colonoscopy procedures, polypoid neural lesions of the colon are being recognised increasingly and range from benign tumours to high-grade malignant neoplasms. Morphological variability of neural tumours can be wide, although some entities share pathological features, and, as such, these lesions can be diagnostically challenging. We review the spectrum of pathology of neural tumours in the gastroenteropancreaticobiliary tract, with the goal of providing a practical approach for practising surgical pathologists.
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Affiliation(s)
- Aoife J McCarthy
- Department of Pathology, Laboratory Medicine Program, University Health Network and University of Toronto, Toronto, Ontario, Canada
| | - Dipti M Karamchandani
- Department of Pathology, Division of Anatomic Pathology, Penn State Health Milton S. Hershey Medical Center, Hershey, Pennsylvania, USA
| | - Runjan Chetty
- Department of Pathology, Laboratory Medicine Program, University Health Network and University of Toronto, Toronto, Ontario, Canada
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Abdominal Imaging Findings in Neurocutaneous Syndromes: Looking Below the Diaphragm. AJR Am J Roentgenol 2017; 209:1197-1208. [PMID: 28981355 DOI: 10.2214/ajr.17.18404] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/20/2022]
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Donia MM, Gamaleldin OA, Abdo AM, Desouky SED, Helmy SAS. Intracranial neoplastic lesions of the trigeminal nerve: How MRI can help. THE EGYPTIAN JOURNAL OF RADIOLOGY AND NUCLEAR MEDICINE 2017. [DOI: 10.1016/j.ejrnm.2017.07.008] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/30/2022] Open
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Levy AD, Manning MA, Miettinen MM. Soft-Tissue Sarcomas of the Abdomen and Pelvis: Radiologic-Pathologic Features, Part 2-Uncommon Sarcomas. Radiographics 2017; 37:797-812. [PMID: 28493803 DOI: 10.1148/rg.2017160201] [Citation(s) in RCA: 32] [Impact Index Per Article: 4.0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/11/2022]
Abstract
Soft-tissue sarcomas occurring in the abdomen and pelvis are an uncommon but important group of malignancies. Recent changes to the World Health Organization classification of soft-tissue tumors include the movement of gastrointestinal stromal tumors (GISTs) into the soft-tissue tumor classification. GIST is the most common intraperitoneal sarcoma. Liposarcoma is the most common retroperitoneal sarcoma, and leiomyosarcoma is the second most common. GIST, liposarcoma, and leiomyosarcoma account for the majority of sarcomas encountered in the abdomen and pelvis and are discussed in part 1 of this article. Undifferentiated pleomorphic sarcoma (previously called malignant fibrous histiocytoma), dermatofibrosarcoma protuberans, solitary fibrous tumor, malignant peripheral nerve sheath tumor, rhabdomyosarcoma, extraskeletal chondro-osseous sarcomas, vascular sarcomas, and sarcomas of uncertain differentiation uncommonly arise in the abdomen and pelvis and the abdominal wall. Although these lesions are rare sarcomas and their imaging features overlap, familiarity with the locations where they occur and their imaging features is important so they can be diagnosed accurately. The anatomic location and clinical history are important factors in the differential diagnosis of these lesions because metastasis, more-common sarcomas, borderline fibroblastic proliferations (such as desmoid tumors), and endometriosis have imaging findings that overlap with those of these uncommon sarcomas. In this article, the clinical, pathologic, and imaging findings of uncommon soft-tissue sarcomas of the abdomen and pelvis and the abdominal wall are reviewed, with an emphasis on their differential diagnosis.
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Affiliation(s)
- Angela D Levy
- From the Department of Radiology, Medstar Georgetown University Hospital, 3800 Reservoir Rd NW, Washington, DC 20007 (A.D.L., M.A.M.); the American Institute for Radiologic Pathology, Silver Spring, Md (M.A.M.); and the Center of Cancer Research, National Cancer Institute, Bethesda, Md (M.M.M.)
| | - Maria A Manning
- From the Department of Radiology, Medstar Georgetown University Hospital, 3800 Reservoir Rd NW, Washington, DC 20007 (A.D.L., M.A.M.); the American Institute for Radiologic Pathology, Silver Spring, Md (M.A.M.); and the Center of Cancer Research, National Cancer Institute, Bethesda, Md (M.M.M.)
| | - Markku M Miettinen
- From the Department of Radiology, Medstar Georgetown University Hospital, 3800 Reservoir Rd NW, Washington, DC 20007 (A.D.L., M.A.M.); the American Institute for Radiologic Pathology, Silver Spring, Md (M.A.M.); and the Center of Cancer Research, National Cancer Institute, Bethesda, Md (M.M.M.)
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Abdessayed N, Gupta R, Mestiri S, Bdioui A, Trimech M, Mokni M. Rare triad of periampullary carcinoid, duodenal gastrointestinal stromal tumor and plexiform neurofibroma at hepatic hilum in neurofibromatosis type 1: a case report. BMC Cancer 2017; 17:579. [PMID: 28851321 PMCID: PMC5575842 DOI: 10.1186/s12885-017-3567-z] [Citation(s) in RCA: 8] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/09/2016] [Accepted: 08/18/2017] [Indexed: 12/21/2022] Open
Abstract
BACKGROUND Neurofibromatosis type 1 is a relatively common inherited disorder. Patients with neurofibromatosis type 1 are at high risk of developing neurogenic, neuroendocrine and mesenchymal intra-abdominal tumors. Although coexistence of multiple tumors of different types is frequent in neurofibromatosis type 1, simultaneous occurrence of abdominal tumors of three types in very rare. CASE PRESENTATION A 66-year-old lady with neurofibromatosis type 1 presented with painless progressive jaundice for six months. Laboratory investigations revealed iron deficiency anemia and conjugated hyperbilirubinemia. Tumor markers were normal. Abdominal computed tomography showed a 3 × 2 cm heterogenous mass in the periampullary region with mild dilation of the common bile duct and another 2 × 1.7 cm mass in the fourth portion of the duodenum. Endoscopic biopsy confirmed the diagnosis of periampullary carcinoid. At surgery, multiple small nodules were detected at the hepatic hilum. Frozen section suggested them to be neurofibromas. Patient underwent pancreatoduodenectomy and had uneventful recovery with no recurrence at two months. Microscopic examination of the resected specimen confirmed presence of three tumors: periampullary well differentiated neuroendocrine tumor, gastrointestinal stromal tumor of the fourth part of duodenum and plexiform neurofibroma at the hepatic hilum. CONCLUSION Patients of neurofibromatosis type 1 with abdominal symptoms should be treated with high index of clinical suspicion and thoroughly evaluated to rule out multiple tumors.
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Affiliation(s)
- Nihed Abdessayed
- Department of pathology, Farhat Hached Hospital, Avenue Farhat Hached, 4000 Sousse, Tunisia
- Research Lab: transfer in technology in anatomic pathology (LR12SP08), Sousse, Tunisia
| | - Rahul Gupta
- Department of HPB surgery, CARE hospital, Hyderabad, India
| | - Sarra Mestiri
- Department of pathology, Farhat Hached Hospital, Avenue Farhat Hached, 4000 Sousse, Tunisia
| | - Ahlem Bdioui
- Department of pathology, Farhat Hached Hospital, Avenue Farhat Hached, 4000 Sousse, Tunisia
| | - Mounir Trimech
- Department of pathology, Farhat Hached Hospital, Avenue Farhat Hached, 4000 Sousse, Tunisia
| | - Moncef Mokni
- Department of pathology, Farhat Hached Hospital, Avenue Farhat Hached, 4000 Sousse, Tunisia
- Research Lab: transfer in technology in anatomic pathology (LR12SP08), Sousse, Tunisia
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Yeo SG, Seok Kim E, Kim MJ, Il Ha H, Lee K, Kwon MJ. Malignant Peripheral Nerve Sheath Tumor in the Lesser Sac Masquerading as a Gastrointestinal Stromal Tumor of the Stomach: A Case Report. IRANIAN JOURNAL OF RADIOLOGY 2016; 14. [DOI: 10.5812/iranjradiol.39609] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 10/13/2023]
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Wang Z, Zhang Y, Cui H, Yao W. Endoscopic low-temperature plasma radiofrequency ablation for laryngeal plexiform neurobromatosis-1 in an infant: Case report and review of the literature. Technol Health Care 2016; 24:775-80. [PMID: 27233088 DOI: 10.3233/thc-161218] [Citation(s) in RCA: 7] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/07/2023]
Abstract
To evaluate the feasibility and effectiveness of using endoscopic low-temperature plasma radiofrequency ablation (RFA) for treatment of laryngeal plexiform neurofibromatosis-1 (NF-1). An infant diagnosed as laryngeal plexiform NF-1 based on a detailed medical history, as well as physical, laboratory, and pathological examinations, was treated under general anesthesia with low-temperature plasma RFA in combination with a self-retaining laryngoscope and high definition camera system.The laryngeal plexiform NF-1 tumor was successfully excised using endoscopic low-temperature plasma RFA without complications. Following surgery, the infant displayed an uneventful recovery and no disease recurrence during a 2-year follow-up period. low-temperature plasma RFA is a feasible and effective method for treating laryngeal plexiform NF-1, and has advantages of producing minimal bleeding, providing complete removal of the tumor, and causing only slight degrees of trauma and postoperative tissue reaction.
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Ahn SE, Park SJ, Moon SK, Lee DH, Lim JW. Sonography of Abdominal Wall Masses and Masslike Lesions: Correlation With Computed Tomography and Magnetic Resonance Imaging. JOURNAL OF ULTRASOUND IN MEDICINE : OFFICIAL JOURNAL OF THE AMERICAN INSTITUTE OF ULTRASOUND IN MEDICINE 2016; 35:189-208. [PMID: 26657747 DOI: 10.7863/ultra.15.03027] [Citation(s) in RCA: 12] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 03/11/2015] [Accepted: 05/02/2015] [Indexed: 06/05/2023]
Abstract
Sonography is usually regarded as a first-line imaging modality for masses and masslike lesions in the abdominal wall. A dynamic study focusing on a painful area or palpable mass and the possibility of ultrasound-guided aspiration or biopsy are the major advantages of sonography. On the other hand, cross-sectional imaging clearly shows anatomy of the abdominal wall; thereby, it is valuable for diagnosing and evaluating the extent of diseases. Cross-sectional imaging can help differentiate neoplastic lesions from non-neoplastic lesions. This pictorial essay focuses on sonographic findings of abdominal wall lesions compared with computed tomographic and magnetic resonance imaging findings.
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Affiliation(s)
- Sung Eun Ahn
- From the Department of Radiology, Graduate School, Kyung Hee University, Seoul, Korea (S.E.A.); and Department of Radiology, Kyung Hee University Hospital, Seoul, Korea (S.J.P., S.K.M., D.H.L., J.W.L.)
| | - Seong Jin Park
- From the Department of Radiology, Graduate School, Kyung Hee University, Seoul, Korea (S.E.A.); and Department of Radiology, Kyung Hee University Hospital, Seoul, Korea (S.J.P., S.K.M., D.H.L., J.W.L.)
| | - Sung Kyoung Moon
- From the Department of Radiology, Graduate School, Kyung Hee University, Seoul, Korea (S.E.A.); and Department of Radiology, Kyung Hee University Hospital, Seoul, Korea (S.J.P., S.K.M., D.H.L., J.W.L.)
| | - Dong Ho Lee
- From the Department of Radiology, Graduate School, Kyung Hee University, Seoul, Korea (S.E.A.); and Department of Radiology, Kyung Hee University Hospital, Seoul, Korea (S.J.P., S.K.M., D.H.L., J.W.L.)
| | - Joo Won Lim
- From the Department of Radiology, Graduate School, Kyung Hee University, Seoul, Korea (S.E.A.); and Department of Radiology, Kyung Hee University Hospital, Seoul, Korea (S.J.P., S.K.M., D.H.L., J.W.L.)
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Henderson-Jackson E, Sheikh U, Muhammad J, Coppola D, Nasir A. Neuroendocrine Neoplasms of the Stomach. NEUROENDOCRINE TUMORS: REVIEW OF PATHOLOGY, MOLECULAR AND THERAPEUTIC ADVANCES 2016:217-244. [DOI: 10.1007/978-1-4939-3426-3_12] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 01/06/2025]
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Bai Y, Jiang M, Liang W, Chen F. Incomplete Intestinal Obstruction Caused by a Rare Epithelioid Inflammatory Myofibroblastic Sarcoma of the Colon: A Case Report. Medicine (Baltimore) 2015; 94:e2342. [PMID: 26705227 PMCID: PMC4697993 DOI: 10.1097/md.0000000000002342] [Citation(s) in RCA: 8] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/20/2022] Open
Abstract
We reported on 1 case of epithelioid inflammatory myofibroblastic sarcoma (EIMS) that occurred in the colon and resulted in an incomplete intestinal obstruction.A 65-year-old male patient presented with abdominal pain without any obvious predisposing cause. He reported a paroxysmal dull pain. Hematochezia occurred occasionally. The symptoms appeared repeatedly and became progressively more aggravated. The patient sought medical advice in our hospital, and his enteroscopy showed colon tumors and an incomplete colonic obstruction. The laboratory examination indicated mild anemia. Plain and enhanced computed tomography (CT) scans showed a large, dumbbell-shaped, soft-tissue mass of 4.1 cm × 9.3 cm in the curved lumen of the descending colon near the spleen. After enhancement, the lesion presented with progressive and uneven enhancement. The boundary between the lesion and parts of the left kidney and spleen was obscured. A small amount of exudation was observed around the lumen, and a slightly enlarged lymph node shadow was observed in the mesangial gap.After each preoperative examination was completed, the tumors invading the spleen and left kidney were excised. Based on the surgical specimen pathological histology and immunohistochemistry, epithelioid inflammatory myofibroblastic sarcoma was diagnosed. Tumor recurrence occurred a short time after excision.EIMS in the abdominal cavity could occur on the intestinal wall, occasionally manifesting as large masses that expand to the inside and the outside of the cavity. It needs to be distinguished from other tumors. Tumor recurrence can easily occur after surgery. Anaplasticlymphoma kinase (ALK) inhibitors are a potential alternative treatment option.
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Affiliation(s)
- Yanjun Bai
- From the Department of Radiology, (YB); Department of Pathology, the People's Hospital of Beilun District, Beilun Branch Hospital of the First Affiliated Hospital (MJ); and Department of Radiology, the First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, Zhejiang, China (WL, FC)
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Suburothelial and extrinsic lesions of the urinary bladder: radiologic and pathologic features with emphasis on MR imaging. ACTA ACUST UNITED AC 2015; 40:2573-88. [DOI: 10.1007/s00261-015-0467-z] [Citation(s) in RCA: 10] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/02/2023]
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Gagliardo C, Falanga G, Sutera R, La Tona G, Lo Casto A, Midiri M, Lagalla R. Presacral myelolipoma. A case report and literature review. Neuroradiol J 2014; 27:764-9. [PMID: 25489902 DOI: 10.15274/nrj-2014-10092] [Citation(s) in RCA: 11] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/04/2014] [Accepted: 08/24/2014] [Indexed: 11/12/2022] Open
Abstract
Many reports have described adrenal myelolipomas but there have been only a few reports of extra-adrenal myelolipomas. We describe a 74-year-old woman who came to our observation for MRI of the lumbar spine for typical lumbar back pain. In addition to signs of mild scoliosis and spondylo disc arthrosis, MR imaging revealed a presacral mass showing a heterogeneously high signal in all pulse sequences and almost completely suppressed on inversion recovery sequences for fat tissue. CT imaging confirmed the fatty nature of the lesion and no signs of bone involvement. These findings were most consistent with a diagnosis of a rare presacral myelolipoma as confirmed at histopathologic analysis. This work reports a case of one of the rarest presacral masses, emphasizing the role of imaging in the differential diagnosis of other presacral masses.
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Affiliation(s)
- Cesare Gagliardo
- Department of Biopathology and Medical and Forensic Biotechnologies, Section of Radiological Sciences, University of Palermo; Italy - -
| | - Giorgia Falanga
- Department of Biopathology and Medical and Forensic Biotechnologies, Section of Radiological Sciences, University of Palermo; Italy
| | - Raffaello Sutera
- Department of Biopathology and Medical and Forensic Biotechnologies, Section of Radiological Sciences, University of Palermo; Italy
| | - Giuseppe La Tona
- Department of Biopathology and Medical and Forensic Biotechnologies, Section of Radiological Sciences, University of Palermo; Italy
| | - Antonio Lo Casto
- Department of Biopathology and Medical and Forensic Biotechnologies, Section of Radiological Sciences, University of Palermo; Italy
| | - Massimo Midiri
- Department of Biopathology and Medical and Forensic Biotechnologies, Section of Radiological Sciences, University of Palermo; Italy
| | - Roberto Lagalla
- Department of Biopathology and Medical and Forensic Biotechnologies, Section of Radiological Sciences, University of Palermo; Italy
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Abstract
The perivertebral space extends from the skull base to the mediastinum and is delineated by the deep layer of the deep cervical fascia. The different tissue types, including muscles, bones, nerves, and vascular structures, give rise to the various disorders that can be seen in this space. This article defines the anatomy of the perivertebral space, guides lesion localization, discusses different disease processes arising within this space, and reviews the best imaging approaches.
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Revzin MV, Scoutt L, Smitaman E, Israel GM. The gallbladder: uncommon gallbladder conditions and unusual presentations of the common gallbladder pathological processes. ACTA ACUST UNITED AC 2014; 40:385-99. [DOI: 10.1007/s00261-014-0203-0] [Citation(s) in RCA: 38] [Impact Index Per Article: 3.5] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/07/2023]
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Ozcan H, Karcaaltincaba M, Oguz B, Haliloglu M. Radiological manifestations of abdominopelvic nerve tumours seen in neurofibromatosis type 1. Clin Radiol 2014; 69:431-5. [DOI: 10.1016/j.crad.2013.11.007] [Citation(s) in RCA: 11] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/24/2013] [Revised: 11/02/2013] [Accepted: 11/07/2013] [Indexed: 02/06/2023]
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Brennan C, Kajal D, Khalili K, Ghai S. Solid malignant retroperitoneal masses-a pictorial review. Insights Imaging 2013; 5:53-65. [PMID: 24293303 PMCID: PMC3948907 DOI: 10.1007/s13244-013-0294-0] [Citation(s) in RCA: 16] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/29/2013] [Revised: 08/31/2013] [Accepted: 10/11/2013] [Indexed: 12/25/2022] Open
Abstract
Primary retroperitoneal masses are a rare but important group of neoplasms. Cross-sectional imaging has revolutionised the investigation of patients with retroperitoneal neoplasms. Both computed tomography (CT) and magnetic resonance imaging (MRI) can contribute to tumour diagnosis, though histological confirmation is often required because of the considerable overlap of imaging features. Cross-sectional imaging is key to the pre-operative staging and planning of retroperitoneal masses, though ultrasound may also help in certain instances. Imaging also helps to select and guide the site to biopsy from these usually large and heterogeneous neoplasms. This article aims to review many of the primary retroperitoneal neoplasms that may be encountered by the radiologist.
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Affiliation(s)
- Cressida Brennan
- Division of Abdominal Imaging, Joint Department of Medical Imaging, University Health Network - Mount Sinai Hospital - Women's College Hospital, University of Toronto, Toronto, ON, Canada
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Abstract
The purpose of this presentation is to allow the radiologist to discuss the diagnosis of retroperitoneal schwannoma, involving mostly a fortuitous discovery and a misleading clinical presentation. We present 4 cases of retroperitoneal schwannoma, two having benefited from a surgery and two others of a therapeutic abstention. The retropritoneal localization and the imaging are good indicator elements of this pathology. The constant improvement of the CT and MR imaging allows a better approach of this entity also by specifying its localization and its anatomical relationships to guide the therapeutic attitude which must be remain mutidisciplinary.
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Bhavsar AS, Verma S, Lamba R, Lall CG, Koenigsknecht V, Rajesh A. Abdominal manifestations of neurologic disorders. Radiographics 2013; 33:135-53. [PMID: 23322834 DOI: 10.1148/rg.331125097] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/20/2022]
Abstract
A variety of disorders-including infectious, inflammatory, hereditary, and metabolic diseases-may affect both the brain and abdominal cavity, and the findings in one region may help establish the diagnosis or limit the differential diagnosis. Establishing an accurate early diagnosis enables clinicians to adequately manage these unusual diseases and potentially avert life-threatening complications. For example, an early diagnosis of Gardner syndrome enables annual sigmoid- or colonoscopy and ultrasonography. In many conditions, abdominal manifestations precede neurologic manifestations and may have prognostic significance. Patients with celiac disease more often present with abdominal manifestations such as duodenitis, slow transit time, reversal of the jejunal-ileal fold pattern, and transient small bowel intussusception than with intracranial manifestations. In other conditions, the neurologic manifestations may be the same as the presenting symptoms. For example, patients with Gardner syndrome may initially present with multiple mandibular or sinonasal osteomas. In addition, sarcoidosis may manifest with multifocal enhancing dural masses. Abdominal and neurologic manifestations may even occur simultaneously, as in several of the phakomatoses such as neurofibromatosis type 1, tuberous sclerosis complex, and von Hippel-Lindau syndrome. Ultimately, familiarity with the appearances of these conditions allows radiologists to pinpoint a diagnosis, even when imaging findings in either location are nonspecific.
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Affiliation(s)
- Anil S Bhavsar
- Department of Radiology, University of Cincinnati Hospitals, 234 Goodman St, ML 0761, PO Box 670761, Cincinnati, OH 45267-0761, USA.
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Intrathoracic malignant peripheral nerve sheath tumors: imaging features and implications for management. Radiol Oncol 2013; 47:230-8. [PMID: 24133387 PMCID: PMC3794878 DOI: 10.2478/raon-2013-0047] [Citation(s) in RCA: 18] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/11/2013] [Accepted: 04/05/2013] [Indexed: 01/24/2023] Open
Abstract
Background The aim of the study was to analyze the clinical and imaging characteristics of primary intrathoracic malignant peripheral nerve sheath tumors (MPNSTs). Patients and methods. In this institutional review board (IRB)-approved retrospective study, clinical and imaging features of 15 patients (eight men; mean age 50 years [range 18–83)] with pathologically proven malignant peripheral nerve sheath tumors seen from January 1999 to December 2011 were analyzed. Imaging features (CT in 15, MRI in 5 and PET/CT in 4) of primary tumors were evaluated by three radiologists and correlated with clinical management. Results Of the 15 tumors, six were located in the mediastinum (two each in anterior, middle and posterior mediastinum), four in chest wall, two were paraspinal, and three in the lung. Four patients had neurofibromatosis-1 (NF1); four tumors had heterologous rhabdomyoblastic differentiation (malignant triton tumor). Masses typically were elongated along the direction of nerves, with mean size of 11 cm. The masses were hypo- or isodense to muscles on CT, isointense on T1-weighted images, hyperintense on T2-weighted images and intensely fluorodeoxyglucose (FDG) avid (mean standardized uptake value [SUV]max of 10.5 [range 4.4–23.6]). Necrosis and calcification was seen in four tumors each. Finding of invasion of adjacent structures on imaging led to change in management in seven patients; patients with invasion received chemoradiation. Conclusions Intrathoracic MPNSTs appear as large elongated masses involving mediastinum, lung or chest wall. Radiological identification of invasion of adjacent structures is crucial and alters therapy, with patients with invasion receiving neoadjuvant or adjuvant chemoradiation.
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Scheurkogel MM, Koshy J, Cohen KJ, Huisman TAGM, Bosemani T. Diagnosis and management of an isolated pediatric plexiform neurofibroma involving the hepatic and celiac plexus using multimodality approach: problem solving with diffusion-weighted magnetic resonance imaging. European J Pediatr Surg Rep 2013; 1:5-8. [PMID: 25755938 PMCID: PMC4336049 DOI: 10.1055/s-0033-1345105] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/13/2013] [Accepted: 03/15/2013] [Indexed: 01/30/2023] Open
Abstract
Plexiform neurofibroma with involvement of the gastrointestinal tract is a very rare entity in children. Here, we present a rather unique case of a 9-year-old boy with no clinical signs or features of neurofibromatosis type 1. A periportal mass lesion was incidentally found after performing an ultrasound in this previously healthy child. Computed tomographic scan was subsequently performed which showed a low-density mass in a periportal distribution with extension along the celiac axis. Because the findings were nonspecific, a pre- and postcontrast magnetic resonance imaging of the abdomen was performed which included diffusion-weighted imaging. The lesion was then confirmed to be a plexiform neurofibroma with open biopsy. Management of plexiform neurofibromas varies widely. Given the extensive nature of the lesion, managing the patient with follow-up rather than surgical excision was favored.
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Affiliation(s)
- Merel M Scheurkogel
- Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States
| | - June Koshy
- Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States
| | - Kenneth J Cohen
- The Johns Hopkins Oncology Center and Department of Pediatrics, The Johns Hopkins University School of Medicine, Baltimore, Maryland, United States
| | - Thierry A G M Huisman
- Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States
| | - Thangamadhan Bosemani
- Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States
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Mirick AL, Bornstein GB, Bancroft LW. Radiologic case study. Neurofibroma causing tarsal tunnel syndrome. Orthopedics 2013; 36:81, 154-7. [PMID: 23379616 DOI: 10.3928/01477447-20130122-01] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/03/2023]
Affiliation(s)
- Anika L Mirick
- University of Central Florida College of Medicine, Florida Hospital, Orlando, Florida, USA
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Onitilo AA, Engel JM. A new NF1 variant in a patient with atypical manifestations. Am J Med Genet A 2013; 161A:389-92. [PMID: 23322702 DOI: 10.1002/ajmg.a.35728] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/02/2011] [Accepted: 09/28/2012] [Indexed: 01/20/2023]
Affiliation(s)
- Adedayo A Onitilo
- Department of Hematology/Oncology, Marshfield Clinic, Weston Center Cancer Care, Weston, Wisconsin 54476, USA
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Kamran SC, Shinagare AB, Howard SA, Hornick JL, Ramaiya NH. A-Z of malignant peripheral nerve sheath tumors. Cancer Imaging 2012; 12:475-83. [PMID: 23108260 PMCID: PMC3483600 DOI: 10.1102/1470-7330.2012.0043] [Citation(s) in RCA: 24] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/23/2022] Open
Abstract
This article reviews the typical and atypical locations, imaging findings, local recurrence, and metastatic pattern of malignant peripheral nerve sheath tumors (MPNSTs). MPNSTs are rare soft tissue sarcomas, commonly occur in extremities, and are often associated with neurofibromatosis. Distinction between benign and malignant tumors can be challenging on imaging. MPNSTs have a poor prognosis; however, rhabdomyoblastic differentiation (malignant triton tumor), which has imaging features similar to MPNSTs, is associated with even more aggressive behavior.
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Affiliation(s)
- S C Kamran
- Department of Imaging, Dana-Farber Cancer Institute, 450 Brookline Ave, Boston, MA 02115, USA
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