1/29. The occurrence of cerebellar hemangioblastoma in numerous first degree relatives with von hippel-lindau disease.von hippel-lindau disease is an autosomal dominant disorder caused by a mutation of VHL gene. The incidence of the disease is one in 36,000 and its clinical manifestation is a familial occurrence of hemangioblastoma of the central nervous system and retina, renal cell cancer and pheochromocytoma. Cerebellar hemangioblastoma is the most frequent or sometimes the only abnormality observed in this syndrome. We present a family with von hippel-lindau disease in which four first degree relatives had a cerebellar hemangioblastoma. This neoplasm caused the death of two brothers aged 27 and 24 years old, respectively and their mother aged 62. The third son of this family was affected ten years ago, at the age of 30. The healthy family members are counselled in Oncological Genetic Outpatient Unit in Gdansk.- - - - - - - - - - ranking = 1keywords = nervous system (Clic here for more details about this article) |
2/29. Somatic mosaicism in von hippel-lindau disease.von Hippel-Lindau (VHL) disease is an autosomal dominant familial cancer syndrome predisposing to the development of retinal and central nervous system haemangioblastomas, pheochromocytomas, renal and pancreatic cancer. In the course of a molecular analysis conducted to detect germline mutations of this gene in von Hippel-Lindau patients and individuals affected by sporadic tumors, we have identified a case of somatic mosaicism in the asymptomatic mother of a VHL patient who was subsequently diagnosed with pheochromocytoma. This is the first report providing molecular evidence of somatic mosaicism in von hippel-lindau disease. mosaicism could provide some genetic explanation for the clinical heterogeneity and variable severity of the VHL phenotype, and should be considered, as a possible event when evaluating sporadic cases of VHL or patients with isolated VHL-related tumors. Hum Mutat 15:114, 2000.- - - - - - - - - - ranking = 1keywords = nervous system (Clic here for more details about this article) |
3/29. Retroperitoneal peripheral hemangioblastoma: a case report and review of the literature.central nervous system hemangioblastomas are uncommon tumors of controversial etiology that are usually found in the posterior fossa of the cranial cavity, retina, and spinal cord. Peripheral involvement is rare; only isolated case reports have been identified. We report an unusual case of hemangioblastoma involving the retroperitoneum. A 47-year-old African-American man presented with polycythemia on routine laboratory testing. Computed tomography revealed a large retroperitoneal mass near the pancreas, in a left suprarenal location, without adrenal involvement and without attachment to a nerve. Although hemangioblastoma may be associated with the von Hippel-Lindau syndrome, this patient did not have any of the stigmata of this disease. The histologic features included a highly vascular tumor with cellular areas composed of plump, pleomorphic spindled and epithelioid (stromal) cells with variable cytoplasmic lipid vacuoles and hypocellular areas with inflammatory cells and collagenous fibrils. Immunohistochemical staining showed that the tumor (stromal) cells were positive for vimentin, calponin, S-100 protein, neuron-specific enolase, and CD57 and negative for glial fibrillary acidic protein, cytokeratins, epithelial membrane antigen, CD34, HMB-45, desmin, and the actins. These morphologic and immunohistochemical findings are consistent with hemangioblastoma. To our knowledge this is the first reported case of a hemangioblastoma in this location. Based on this case we conclude that hemangioblastoma may occur in the retroperitoneum and outside of the central nervous system in a patient without von Hippel-Lindau syndrome. The immunoprofile of this case suggests that hemangioblastomas are mesenchymal neoplasms exhibiting both neural and myofibroblastic differentiation.- - - - - - - - - - ranking = 2keywords = nervous system (Clic here for more details about this article) |
4/29. central nervous system complications of von hippel-lindau disease and pregnancy; perinatal considerations: case report and literature review.A 30-year-old woman with von hippel-lindau disease presented at 30 weeks' gestation with a symptomatic cerebellar hemangioblastoma. She underwent a craniotomy for complete removal of the tumor. The postoperative period and the remaining of the pregnancy were uneventful. She delivered under epidural anesthesia after induction for postterm.- - - - - - - - - - ranking = 4keywords = nervous system (Clic here for more details about this article) |
5/29. Haemangioblastoma of a cervical sensory nerve root in Von Hippel-Lindau syndrome.Spinal haemangioblastomas are rare, accounting for only about 7% of all central nervous system cases. The case of a 40-year-old woman with a haemangioblastoma arising solely from a cervical sensory nerve root is presented. At operation via a cervical laminectomy, it was possible to resect the tumour en masse with the sensory ramus, by extending the laminectomy through the exit foramen for C6. Haemangioblastomas are commonly intramedullary, and have only been reported in this location on one previous occasion. The patient has Von Hippel-Lindau syndrome and a history of multiple solid tumours. The possible role of the Von Hippel-Lindau tumour suppressor gene in the pathogenesis of these neoplasms is discussed.- - - - - - - - - - ranking = 1keywords = nervous system (Clic here for more details about this article) |
6/29. Clinics in diagnostic imaging (49). Cerebello-tonsillar haemangioblastoma.A 39-year-old man with cerebello-tonsillar haemangioblastoma is presented,with emphasis on its morphological and imaging features. Although both computed tomography and cerebral angiography are very useful imaging modalities in helping to establish a radiological diagnosis, magnetic resonance (MR) imaging is more accurate and sensitive in depicting the lesion nature and extent. MR imaging is especially reliable in detecting multiple and other associated lesions within the central nervous system, such that a conclusive diagnosis of the von Hippel-Lindau syndrome can be made in selected cases. It is important to identify isolated haemangioblastomas as they constitute a relatively high percentage of benign resectable tumours within the posterior fossa.The differential diagnosis and imaging features of other posterior fossa tumours are also discussed.- - - - - - - - - - ranking = 1keywords = nervous system (Clic here for more details about this article) |
7/29. Cryptic von hippel-lindau disease: germline mutations in patients with haemangioblastoma only.OBJECTIVES: central nervous system haemangioblastoma (HAB) is a major feature of von Hippel-Lindau (VHL) disease, and it is estimated that about 30% of HAB patients have VHL disease. Consequently, it is widely recommended that sporadic HAB patients are screened for clinical and radiological features of VHL disease because of the risk of multiple tumours. We investigated the frequency of VHL germline mutations in patients with HAB only with no clinical or radiological evidence of VHL disease to define the role of molecular genetic analysis in the management of such patients. methods: Eighty four patients with a single HAB (23 Dutch, 61 UK) and four with multiple HAB (two Dutch, two UK) were studied by direct sequencing of the coding region and quantitative Southern blotting. RESULTS: A VHL germline mutation was found in three of 69 (4.3%) single HAB patients aged 50 years or less (three of 84 (3.6%) total single HAB patients). A germline VHL mutation was detected in a 44 year old woman with a solitary cerebellar HAB, as well as in four clinically unaffected close relatives, and in two single HAB cases presenting at the ages of 29 and 36 years. Germline VHL mutations were detected in two of four cases with multiple HAB. CONCLUSIONS: Early detection of VHL disease is important to reduce morbidity and mortality and therefore we recommend that, in addition to conventional clinical and radiological investigations, VHL gene mutation analysis should be offered to all HAB patients younger than 50 years. HAB patients aged >50 years will have a lower a priori risk of VHL disease and further data are required to evaluate the role of routine molecular genetic investigations in late onset HAB cases. The failure to detect germline VHL mutations in some patients with multiple HAB may indicate the presence of somatic mosaicism or additional HAB susceptibility genes.- - - - - - - - - - ranking = 1keywords = nervous system (Clic here for more details about this article) |
8/29. Epidural anaesthesia for Caesarean section in a patient with von hippel-lindau disease.von hippel-lindau disease is a rare autosomal dominant disease with incomplete penetrance and variable expression and is characterized by diffuse haemangioblastomas of the central nervous system and viscera. The majority of the central nervous system lesions are located in the cerebellum. This report describes the successful management with epidural anaesthesia of a woman with a term gestation, von hippel-lindau disease and cerebellar haemangioblastoma.- - - - - - - - - - ranking = 2keywords = nervous system (Clic here for more details about this article) |
9/29. choroid plexus papilloma diagnosed by crush cytology.In a 32-yr-old man, an infratentorial cystic lesion with a mural nodule was interpreted to be either a hemangioblastoma or a cystic astrocytoma on CT scan. Intraoperative crush cytology revealed it to be a choroid plexus papilloma (CPP). The utility of crush cytology in the rapid diagnosis of central nervous system (CNS) tumors and the differential diagnosis of CNS papillary lesions are highlighted in this report.- - - - - - - - - - ranking = 1keywords = nervous system (Clic here for more details about this article) |
10/29. Metastasis of renal cell carcinoma to central nervous system hemangioblastoma in two patients with von hippel-lindau disease.Here we report tumor-to-tumor metastases identified in two patients with von Hippel-Lindau (VHL) disease. The first patient had bilateral renal carcinomas and multiple cerebellar hemangioblastomas, and the second patient had a renal carcinoma and multiple hemangioblastomas in the retina, cerebellum and spinal cord. A cerebellar lesion from the first patient and a spinal lesion from the second patient contained two distinct components. The inner part of these tumors consisted of a nested mass of polygonal clear cells that expressed cytokeratin and epithelial membrane antigen, while the outer part of the tumors showed proliferation of capillaries and intervening foamy stromal cells that were negative for cytokeratin and epithelial membrane antigen. The tumors were thus considered to be hemangioblastomas complicated by metastatic lesions of renal cell carcinoma of clear cell type. These cases indicate that tumor-to-tumor metastasis should be considered when hemangioblastoma contains a clear cell carcinoma component in the setting of VHL disease, and that immunohistochemical staining for cytokeratin and epithelial membrane antigen is useful for the diagnosis.- - - - - - - - - - ranking = 4keywords = nervous system (Clic here for more details about this article) |
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