Characteristic chromosomal aberrations in sporadic cerebellar hemangioblastomas revealed by comparative genomic hybridization.
作者： Sandra H.E. Sprenger , Johanna M.M. Gijtenbeek , Pieter Wesseling , Raf Sciot , Frank Van Calenbergh
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摘要: Hemangioblastomas (HBs) of the central nervous system are benign tumors and occur as sporadic (sp) (75%) or a manifestation von Hippel-Lindau (VHL) disease (25%). VHL-disease is an autosomal dominant disorder characterized by HBs retina, renal cell carcinoma (RCC), phaeochromocytoma (PHEO), islet pancreas, endolympatic sac well cysts cystadenoma in kidney, pancreas epididymis. In VHL patients large spectrum germline mutations gene has been detected. spHBs alleles reported to be inactivated up 50% tumors. To our knowledge involvement other genes not investigated. elucidate oncogenesis spHBs, we performed CGH on 10 screen for chromosomal imbalances throughout entire tumor genome. Aberrations most frequently detected losses chromosomes 3 (70%), 6 (50%), 9 (30%), 18q (30%) gain chromosome 19 (30%). Based these frequencies co-occurrence aberrations analyzed hypothesize that loss (harboring gene) early event followed 6, then 9, 19. Comparison those previously RCCs PHEOs reveals pathway shows similarities both PHEOs.
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