A Novel RNF139 Mutation in Hemangioblastomas: Case Report

This report supports that the novel mutation of RNF139 p.Q650R probably serve as a key role in HBs progression. Introduction Central nervous system hemangioblastomas (HBs) are benign tumors which usually occur in cerebellum (1), and the pathogenesis of HBs is still unknown. According to the revised World Health Organization (WHO) classification of tumors of the nervous system published in 2000, HBs were classified to the tumors of uncertain histogenesis. The morphology code of the International Classification of Diseases for Oncology (ICD-O)is 9161/1, grade I. HBs are composed of mesenchymal cells and abundant capillaries, so it can also be called as capillary HBs. Some patients are accompanied with Von Hippel-Lindau (VHL) disease (2). VHL, an autosomal dominant hereditary disease, is one of the familial neoplastic syndromes affecting the nervous system (3). It has a broad spectrum of clinical manifestation, in which about 40 different lesions in 14 organs have been described. It is characterized by the occurrence of retinal or central nervous system HBs, renal clear-cell carcinoma, pheochromocytoma, pancreatic, and internal auditorytumors (4, 5), resulting from the germline mutation of the VHL tumor suppressor gene located on chromosome 3P25-26. The prevalence of VHL ranges from 1: 36,000 to 1: 45,500 (6). Males and females are equally affected. In clinic, HBs patients often show progressively increasing intracranial pressure with unilateral cerebellar dysfunction, ...
Source: Frontiers in Neurology - Category: Neurology Source Type: research

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