1/24. Iridocorneal melanoma associated with type 1 neurofibromatosis: a clinicopathologic study.OBJECTIVE: A clinicopathologic study of an iridocorneal melanoma associated with type 1 (peripheral) neurofibromatosis is presented. DESIGN: Case report with clinicopathologic correlation. PARTICIPANT: A 32-year-old white woman with type 1 neurofibromatosis presented with long-standing blindness of her right eye due to diffuse intrastromal brown corneal discoloration. INTERVENTION: The patient underwent penetrating keratoplasty and the corneal button was inspected. RESULTS: Histopathologic evaluation of the corneal button after penetrating keratoplasty revealed an intrastromal mixed-type malignant melanoma, which stained positively with HMB-45 and S-100 protein and spared the corneal epithelium and limbus. The corneal graft remained transparent, with best-corrected visual acuity of 20/30. Twenty-two months after surgery, the tumor involved the anterior chamber angle and the iris. Three years later, it caused refractory glaucoma necessitating enucleation. The iris tumor did not extend beyond the iris-lens diaphragm and showed the same cytologic features as the corneal stromal tumor. CONCLUSION: To our best knowledge, this is the first report of iridocorneal melanoma associated with peripheral neurofibromatosis. The location of the tumor in the deep corneal stroma, without initial macroscopic involvement of the angle or iris, may suggest that the corneal portion of the tumor may have developed "in situ" rather than as an extension of iris melanoma. The common origin of melanoma cells and schwann cells from the neural crest and the proliferation of the schwann cells in neurofibromatosis provides additional support for this hypothesis.- - - - - - - - - - ranking = 1keywords = stromal (Clic here for more details about this article) |
2/24. Simultaneous involvement of the jejunum and the colon by type-1 neurofibromatosis.Type-1 neurofibromatosis (NF-1) or Von Recklinghausen disease is an autosomal dominant hereditary condition that may affect the gastrointestinal tract in 25% of cases and which takes three main forms: ganglioneuromatosis, stromal tumors, and tumors in the duodenum and periampullar region. Not infrequently, these patients present with gastrointestinal bleeding. We present the case of a 48-year-old patient diagnosed as having NF-1, with relapsing episodes of gastrointestinal hemorrhage, in which we discovered the simultaneous presence of a stromal tumor in the jejunum together with polypoid and diffuse ganglioneuromatosis in the colon.- - - - - - - - - - ranking = 0.66666666666667keywords = stromal (Clic here for more details about this article) |
3/24. Ampullary carcinoid and jejunal stromal tumour associated with von Recklinghausen's disease presenting as gastrointestinal bleeding and jaundice.We report a very rare case of a 36-year-old woman with von Recklinghausen's disease, synchronous carcinoid of the ampulla of vater and stromal tumour of the jejunum, who presented with gastrointestinal bleeding and jaundice.- - - - - - - - - - ranking = 38.36892738209keywords = stromal tumour, stromal (Clic here for more details about this article) |
4/24. gynecomastia in type-1 neurofibromatosis with features of pseudoangiomatous stromal hyperplasia with giant cells. Report of two cases.We describe the histological finding in two cases of gynecomastia in patients with von Recklinghausen's disease. The histological and immunohistochemical features of the two cases were reviewed and compared with those of five cases of gynecomastia in men without clinical evidence of neurofibromatosis. In both patients bearing von Recklinghausen's disease, the breast stroma showed features consistent with pseudoangiomatous stromal hyperplasia (PASH). It was characterised by anastomosing empty spaces lined by spindle and multinucleated giant cells which were positive with CD34 and anti-vimentin antisera and negative with anti-FVIII and CD31 antisera. In two of five of the control cases without neurofibromatosis, the mammary stroma showed focal areas with features of PASH, but no multinucleated giant cells were present in any case. PASH with giant cells should be recognised as a feature of gynecomastia in von Recklinghausen's disease. The presence of multinucleated giant cells is very unusual and, although more cases have to be studied, these cells seem to be a feature of PASH occurring in patients with von Recklinghausen's disease.- - - - - - - - - - ranking = 1.6666666666667keywords = stromal (Clic here for more details about this article) |
5/24. Multiple small intestinal stromal tumours in a patient with previously unrecognised neurofibromatosis type 1: immunohistochemical and ultrastructural evaluation.Neurofibromatosis type 1 could be associated with multiple gastrointestinal stromal tumours, although their presence is not considered among the major diagnostic criteria. We present here a case of a 50-year-old female complaining of abdominal pain, with about 100 small intestinal stromal tumours. This finding prompted us to suspect a neurofibromatosis which was clinically confirmed afterwards. light microscopy examination revealed a low-grade stromal tumour with skeinoid fibres. Mixed neural-interstitial cells of cajal origin or, alternatively, neural differentiation of interstitial cells of cajal are discussed on the basis of immunophenotype (CD117 , CD34 ) and ultrastructure. A 2-year follow-up did not indicate an aggressive course in the case of this neoplasm.- - - - - - - - - - ranking = 149.10255166915keywords = gastrointestinal stromal tumour, gastrointestinal stromal, stromal tumour, stromal (Clic here for more details about this article) |
6/24. Ampullary adenocarcinoma in neurofibromatosis type 1. Case report and literature review.Periampullary tumors in patients affected by Neurofibromatosis Type 1 (NF-1) are usually carcinoids or stromal tumors and, rarely, adenocarcinomas. We report a case of an adenocarcinoma of the ampulla of vater in a 54-year-old woman with NF-1 admitted to the hospital with jaundice and undergoing pancreato-duodenectomy. Histologically, the resected specimen showed an adenocarcinoma of the ampulla as being a part of a complex atypical epithelial proliferation extended from the papilla to the mucosa of the duodenum and distal choledochus, islet-cell adenomatosis of the pancreas and multiple gastric, duodenal, jejunal stromal tumors. The ampullary and periampullary adenocarcinomas in NF-1 patients have peculiar features, suggesting a widespread predisposition to cancer development in periampullary tissues and requiring widely demolitive surgery. Moreover, they occur at a younger age than those occurring in non-NF-1 patients, may be associated with additional periampullary epithelial tumors, are often operable and may present long survival.- - - - - - - - - - ranking = 0.66666666666667keywords = stromal (Clic here for more details about this article) |
7/24. Bowel perforation due to gastrointestinal autonomic nerve tumour associated with neurofibromatosis type 1.Gastrointestinal autonomic nerve (GAN) tumours form a distinct subcategory of gastrointestinal stromal tumours, and are thought to originate from the enteric autonomic plexus. To date, a total of 45 cases have been documented in the literature; a few of these cases were associated with neurofibromatosis type 1 (NF-1). Bowel perforation due to other gastrointestinal stromal tumours has been reported only twice, but never in association with a GAN tumour. We describe a 40-year-old woman with NF-1 who had bowel perforation due to a GAN tumour. The patient underwent radical surgical resection and remained tumour free for at least 4 years, which may indicate a good prognosis.- - - - - - - - - - ranking = 206.11967762128keywords = gastrointestinal stromal tumour, gastrointestinal stromal, stromal tumour, stromal (Clic here for more details about this article) |
8/24. somatostatinoma of the papilla of Vater with multiple gastrointestinal stromal tumors in a patient with von Recklinghausen's disease.We report a case of somatostatinoma of the papilla of Vater with multiple gastrointestinal stromal tumors in a patient with von Recklinghausen's disease (VRD). A 64-year-old woman who had had recurrent attacks of acute pancreatitis and cholangitis was found, on gastroduodenal endoscopy, to have a tumor of the papilla of Vater and multiple submucosal tumors of the stomach and duodenum. Numerous submucosal tumors were observed in the stomach, duodenum, and jejunum, and total excision of the papilla of Vater and resection of the duodenal and jejunal submucosal tumors was performed. The tumor of the papilla of Vater showed the histologic appearance of a dense proliferation of tumor cells in acinar form, from the duodenal mucosa to the muscle layer, and psammoma bodies were revealed within the tumor. Immunohistologically, the tumor cells were intensely positive for somatostatin. The submucosal tumors of the duodenum and jejunum were negative for smooth muscle actin, s-100, and neuron-specific enolase (NSE), and positive for CD34 and c-kit, and they were diagnosed as gastrointestinal stromal tumors (GISTs) according to the strict definition. The only 25 cases of papilla of Vater somatostatinoma associated with VRD to have been reported in the English-language literature since 1982 are reviewed, as well as our own case.- - - - - - - - - - ranking = 216.47927973283keywords = gastrointestinal stromal, stromal (Clic here for more details about this article) |
9/24. Von Recklinghausen disease and gastrointestinal stromal tumors.BACKGROUND: We discuss how the notion of mesenchymal or connective tumors of the digestive tract has passed to the concept of stromal tumors and its links with von Recklinghausen disease, and make special reference to the progress in medical treatment. methods: We have studied one of our own cases and did a review of the literature. RESULTS: For isolated primary lesions, good results are obtained with surgery. For metastatic forms, dramatic improvements have been recently described with STI 51, an inhibitor of tyrosium-kinase. CONCLUSIONS: gastrointestinal stromal tumors are now well understood with immunochemistry analysis. Their links with von Recklinghausen disease deserve attention and are not probably a random event. Primary isolated tumors are best treated by surgery; metastatic or recurrent forms have recently shown dramatic improvement with STI 571.- - - - - - - - - - ranking = 144.98618648855keywords = gastrointestinal stromal, stromal (Clic here for more details about this article) |
10/24. Gastrointestinal complications of von Recklinghausen's disease: two case reports and a review of the literature.There are few reports of the association between neurofibromatosis (von Recklinghausen's disease) and large, solid stromal tumours of the gastrointestinal tract. The prevalence of gastrointestinal involvement in von Recklinghausen's disease has been estimated at 11%-25%. Some associated gastrointestinal stromal tumours present clinically as bowel obstruction, perforation or gastrointestinal bleeding. We recently treated two patients with this condition who presented with gastrointestinal bleeding and were diagnosed with gastrointestinal stromal tumours. We report the unique aspects of these cases and discuss the diagnostic and management problems that are posed by this unusual association.- - - - - - - - - - ranking = 213.79346309769keywords = gastrointestinal stromal tumour, gastrointestinal stromal, stromal tumour, stromal (Clic here for more details about this article) |
| | Next -> |