1/23. Diffuse, retroperitoneal mesenteric and intrahepatic periportal plexiform neurofibroma in a 5-year-old boy.We present a case of plexiform neurofibroma involving the retroperitoneum, mesentery, and liver in a 5-year-old boy who underwent evaluation for extent of a palpable left neck mass. The mass had intrathoracic extension with great vessel encasement and extension into the abdomen. Abdominal CT revealed a diffuse low-attenuation non-enhancing mass encasing the retroperitoneal vessels with serpiginous extension into the liver along the portal vein. This spread pattern of plexiform neurofibroma is an unusual manifestation of neurofibromatosis in a young child.- - - - - - - - - - ranking = 1keywords = fibromatosis (Clic here for more details about this article) |
2/23. Anterior abdominal wall malignant peripheral nerve sheath tumor in an infant.Malignant peripheral nerve sheath tumors (MPNST), also known as malignant schwannomas, are highly malignant lesions that tend to arise in the head and neck region or on the extremities, and only rarely in the retroperitoneum. These tumors are not common in children. Almost 50% of cases are associated with neurofibromatosis. When these neoplasms arise in the retroperitoneum, they usually are difficult to diagnose and to treat. Although various radiologic imaging methods are helpful for identifying some features of the mass, definitive diagnosis requires histologic examination and immunohistochemical staining. After treatment, the tumor recurs in 25% of patients. Five-year survival rates as high as 80% have been reported. Total excision, lack of invasion of surrounding tissues and vessels, and absence of neurofibromatosis, are features associated with better outcome. The authors present the case of a 1-month-old boy who had malignant schwannoma diagnosed in a unique location over the peritoneum of the anterior abdomen. The location and rapid growth of the tumor permitted early identification and total excision. J Pediatr Surg 36:1866-1868.- - - - - - - - - - ranking = 2keywords = fibromatosis (Clic here for more details about this article) |
3/23. Infrarenal aortic rupture secondary to neurofibromatosis.Neurofibromatosis is characterized by its cutaneous manifestations. It also is manifested by arterial lesions commonly found in arterioles and small arteries but rarely in large arteries. We present a patient with type I neurofibromatosis with spontaneous rupture of his abdominal aorta. He was found at the time of emergency laparotomy to have direct compression of his aorta by retroperitoneal neurofibromas and abnormal aortic structural wall integrity.- - - - - - - - - - ranking = 6keywords = fibromatosis (Clic here for more details about this article) |
4/23. Retroperitoneal neurofibrosarcoma in a patient with neurofibromatosis. 2: A case report and review of the literature.Neurofibromatosis (NF) type I (NF1) is the most common familial cancer-predisposing syndrome in humans, while type 2 (NF2) accounts for an extremely small percentage of the total cases of NF. Tumors occurring in patients with NF1 are primarily peripheral neurofibromas, while NF2 patients present with central schwannomas. Malignant transformation has been described in NF1 patients; however, in NF2 the risk of malignant transformation is extremely rare. In this case report, the authors document a retroperitoneal neurogenic sarcoma occurring in a 20-year-old woman with NF2 (bilateral acoustic schwannomas, meningioma, and multiple intraspinal tumors).- - - - - - - - - - ranking = 5keywords = fibromatosis (Clic here for more details about this article) |
5/23. Retroperitoneal malignant peripheral nerve sheath tumor: evaluation with serial FDG-PET.Retroperitoneal malignant peripheral nerve sheath tumor (MPNST), a rare type of neurogenic tumor, was diagnosed in a 14-year-old girl with a history of neurofibromatosis type 1 (NF1). immunochemistry demonstrated spindle cells positive for S-100 protein. The patient had multiple tumor recurrences and she was evaluated with serial F-18 fluorodeoxyglucose (FDG) positron emission tomography (PET). A tumor in the right iliac wing showed increased FDG uptake on PET. FDG-PET played an important role in therapy planning and subsequent follow up. This case emphasizes the important role FDG-PET could play in the staging, restaging, and posttherapy follow up of MPNST.- - - - - - - - - - ranking = 1keywords = fibromatosis (Clic here for more details about this article) |
6/23. Malignant peripheral nerve sheath tumor arising spontaneously from retroperitoneal ganglioneuroma: a case report, review of the literature, and immunohistochemical study.We report a case of a malignant peripheral nerve sheath tumor arising from a retroperitoneal ganglioneuroma in an adult male. There was no known previous history of a childhood neuroblastoma or of radiation therapy. In addition, the patient had no stigmata or family history of von Recklinghausen's neurofibromatosis. This case provides evidence that, although rare, spontaneous malignant transformation of ganglioneuroma can occur. Immunohistochemical studies supported that the spindle cell component was of nerve sheath origin.- - - - - - - - - - ranking = 1keywords = fibromatosis (Clic here for more details about this article) |
7/23. Retroperitoneal plexiform neurofibroma mimicking psoas abscesses.Retroperitoneal plexiform neurofibroma is a rare finding in neurofibromatosis type I, or von Recklinghausen's disease. A case of retroperitoneal plexiform neurofibroma mimicking psoas abscesses is reported here with its CT and MRI findings.- - - - - - - - - - ranking = 1keywords = fibromatosis (Clic here for more details about this article) |
8/23. Thoracoscopically guided transaxillary resection of adjoining intercostal plexiform neurofibromas: review of mosaicism in neurofibromatosis: technical note.OBJECTIVE AND IMPORTANCE: The present article describes a rare presentation of Type I neurofibromatosis (NFI) involving adjoining intercostal plexiform neurofibromas, as well as the novel use of thoracoscopy to guide surgical resection. This presentation highlights the manner in which NFI may affect selective regions of the body disproportionately through genetic mosaicism. CLINICAL PRESENTATION: A 40-year-old man had intractable neuropathic anterior right chest wall pain in the distribution of T2 and T3. magnetic resonance imaging and computed tomography of the chest revealed masses deep to the second and third ribs in the axilla. biopsy of a subcutaneous nodule in the right chest wall revealed a small neurofibroma. An extensive workup revealed no masses outside the region of the right chest wall and no stigmata of NFI. INTERVENTION: The patient underwent right-sided thoracoscopy for identification of the intrathoracic neurofibromas and placement of spinal needles to localize the anterior and posterior extent of the masses. These landmarks were used to guide a transaxillary approach to third rib resection and nerve-sparing neurofibroma resection. CONCLUSION: Isolated adjoining intercostal plexiform neurofibroma is a unique presentation of mosaic NFI. Because of its limited penetrance, this variant may present as a regional pain syndrome. thoracoscopy can be used effectively to guide intercostal nerve sheath tumor resection.- - - - - - - - - - ranking = 5keywords = fibromatosis (Clic here for more details about this article) |
9/23. Recurrent retroperitoneal malignant nerve sheath tumor associated with neurofibromatosis type 1 responding to carboplatin and etoposide combined chemotherapy.A 25-year-old man was referred to our hospital with left flank pain, and computed tomography (CT) and magnetic resonance imaging (MRI) revealed large retroperitoneal masses. physical examination revealed many cafe-au-lait spots and superficial neurofibromas, and a diagnosis of neurofibromatosis type 1 (von Recklinghausen's disease) was made. The tumor was resected, and the pathological diagnosis was malignant peripheral nerve sheath tumor (MPNST). Six months after the operation, lung metastases were detected. Surgical resection was incomplete, as there were too many lesions. He received four courses of chemotherapy with carboplatin and etoposide, and the metastatic lung lesions were markedly decreased. After chemotherapy, complete resection of the remaining lung lesions was performed, and there has been no recurrence to date.- - - - - - - - - - ranking = 5keywords = fibromatosis (Clic here for more details about this article) |
10/23. The malignant potential of a succinate dehydrogenase subunit B germline mutation.Familial catecholamine secreting tumors have been associated with multiple endocrine neoplasia type 2, von hippel-lindau disease and neurofibromatosis type 1. In the last years, mutations of genes encoding subunits B, C and D of the succinate dehydrogenase have been discovered as other causes of pheochromocytomas and paragangliomas. We diagnosed a malignant retroperitoneal paraganglioma in a 64-yr-old man with bone metastasis in 2001. Two years later a retroperitoneal benign paraganglioma was found and resected in his 32-yr-old daughter. Thus we diagnosed in this family a paraganglioma syndrome. We performed molecular genetic analyses of the genes SDHB, SDHC, and SDHD. We detected in the SDHB gene the mutation SDHB c. 558-3 C> G affecting the splice site of exon 5. In a second daughter the mutation was also detected, thorough clinical investigation revealed normal results. We conclude that the SDHB mutation predisposes to abdominal extra-adrenal and potential malignant pheochromocytoma with incomplete penetrance.- - - - - - - - - - ranking = 1keywords = fibromatosis (Clic here for more details about this article) |
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