1/86. Spontaneous remission of chiasmatic/hypothalamic masses in neurofibromatosis type 1: report of two cases.We report two children with neurofibromatosis type 1 showing enhancing masses on MRI suggesting neoplasms in the chiasm and hypothalamic region. In both patients no visual or endocrinal dysfunction was present. On serial MRI spontaneous partial remission was found, implying that a cautious approach to therapeutic management of similar cases should be taken.- - - - - - - - - - ranking = 1keywords = neoplasm (Clic here for more details about this article) |
2/86. breast cancer associated with Recklinghausen's disease: report of a case.A 49-year-old woman with Recklinghausen's disease presented to our department for investigation of a left breast lump, measuring 60 mm x 50 mm, which she had first noticed 6 months earlier, but had disregarded, believing it to be another manifestation of her Recklinghausen's disease. The lump was suspected to be malignant based on physical examination and ultrasonography. biopsy and frozen sections subsequently confirmed a diagnosis of scirrhous carcinoma. A standard radical mastectomy was performed, followed by postoperative chemoendocrine therapy. However, lungs, liver, and bone metastasis, as well as a contralateral breast tumor, developed and she died 4 months after surgery.- - - - - - - - - - ranking = 2.3353553637808keywords = cancer (Clic here for more details about this article) |
3/86. A case of multiple subungual glomus tumors associated with neurofibromatosis type 1.glomus tumor is a distinctive neoplasm characterized by the presence of cells that resemble the modified smooth muscle cells of the normal glomus body, which is a specialized form of arteriovenous anastomosis. We report a case of multiple subungual glomus tumors associated with neurofibromatosis and review the literature on the pathophysiology of this association.- - - - - - - - - - ranking = 1keywords = neoplasm (Clic here for more details about this article) |
4/86. meningioma presenting as an intraoral mass in a patient with neurofibromatosis type 1.A 77-year-old woman with neurofibromatosis type 1 presented with ill-fitting dentures due to intraoral extension of a right temporal fossa mass. Computed tomographic scanning demonstrated that the masticator space mass bowed the zygomatic arch and remodeled the lateral orbit and maxillary sinus walls, findings that were consistent with the clinical diagnosis of a neurofibroma with possible malignant transformation. However, light microscopic, immunohistochemical, and ultrastructural examination of tissue from an incisional biopsy specimen were diagnostic of meningioma. This case illustrates that the clinicopathologic differential diagnosis of an enlarging mass in patient with neurofibromatosis should include sporadic, unrelated neoplasms as well as tumors known to be associated with the syndrome.- - - - - - - - - - ranking = 1keywords = neoplasm (Clic here for more details about this article) |
5/86. Loss of neurofibromin is associated with activation of RAS/MAPK and PI3-K/AKT signaling in a neurofibromatosis 1 astrocytoma.neurofibromatosis 1 (NF1) is a common autosomal dominant cancer predisposition syndrome, in which 15% to 20% of affected individuals develop astrocytomas. Neurofibromin, the protein product of the NF1 gene, functions as a tumor suppressor, largely by inhibiting Ras activity. While loss of neurofibromin has been implicated in the molecular pathogenesis of other NF1-associated tumors, there is no formal evidence demonstrating loss of neurofibromin function in NF1-associated astrocytomas. In this report, we describe an NF1 patient from whom both astrocytoma tumor tissue as well as corresponding non-neoplastic white matter were available for analysis. Loss of neurofibromin expression was observed in the tumor and was associated with elevated levels of Ras-GTP. However, elevated Ras-GTP levels were not the result of oncogenic Ras mutations, altered p120-GAP function, growth factor receptor activation, or abnormal p53, Rb, or p16 expression. Furthermore, increased Raf-MAPK and PI3-K/Akt activity was detected in the NF1 astrocytoma compared with the corresponding normal white matter. These results support a role for neurofibromin as the critical GAP in the molecular pathogenesis of NF1 astrocytomas.- - - - - - - - - - ranking = 0.5838388409452keywords = cancer (Clic here for more details about this article) |
6/86. Atypical focal non-neoplastic brain changes in neurofibromatosis type 1: mass effect and contrast enhancement.Children and young adults with neurofibromatosis type 1 often have small high-signal foci on T2-weighted images of the brain. We describe follow-up of two patients in whom one of the foci had atypical features, commonly regarded as signs of a neoplasm. In the first, one lesion showed temporary contrast enhancement and decreasing mass effect. The second developed an expanding lesion that increased minimally in size over 4.5 year's follow-up. The borderline between neoplastic and non-neoplastic lesions seems to be indistinct.- - - - - - - - - - ranking = 1keywords = neoplasm (Clic here for more details about this article) |
7/86. 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 = 1keywords = neoplasm (Clic here for more details about this article) |
8/86. 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 = 0.5838388409452keywords = cancer (Clic here for more details about this article) |
9/86. Primary duodenal adenocarcinoma associated with neurofibromatosis type 1.It is well known that patients with neurofibromatosis have an increased incidence of various neoplasms, most of these being tumors of neural-crest origin, including neurofibromas, leiomyomas, ganglioneuromas, paragangliomas, and carcinoids. However, the occurrence of small-bowel adenocarcinoma is rare. In this article, we report a patient with small-bowel adenocarcinoma, the seventh such reported case. We include a review of the literature and a brief discussion of the implications of this association. We suggest that the association between small-bowel adenocarcinomas and neurofibromatosis may not be fortuitous, and that small-bowel adenocarcinoma should be considered, in particular. in the differential diagnosis of gastrointestinal symptoms in patients with neurofibromatosis. Also, a definite histologic diagnosis must be made, with the employment of special staining techniques, because of the differing prognoses for various cell types.- - - - - - - - - - ranking = 1keywords = neoplasm (Clic here for more details about this article) |
10/86. Medulloblastomas in neurofibromatosis type 1. Case report and literature review.A 6-year-old girl, previously diagnosed with neurofibromatosis type 1 (NF-1) presented with ataxia and symptoms of raised intracranial pressure. Diagnostic work up disclosed a posterior fossa tumor. Histopathological study of the excised neoplasm showed a cerebellar medulloblastoma. We review the current literature and suggest that the association of medulloblastoma with NF-1 is not a chance occurrence, and that it might be pathogenically related. We propose that medulloblastoma should be added to the list of malignancies that are apt to occur in NF-1.- - - - - - - - - - ranking = 1keywords = neoplasm (Clic here for more details about this article) |
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