Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

doi:10.1186/s40478-014-0167-x

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Article

Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta neuropathologica communications - 24 Dec 2014

Shankar Ganesh M, Taylor-Weiner Amaro, Lelic Nina, Jones Robert T, Kim James C, Francis Joshua M, Abedalthagafi Malak, Borges Lawrence F, Coumans Jean-Valery, Curry William T, Nahed Brian V, Shin John H, Paek Sun Ha, Park Sung-Hye, Stewart Chip, Lawrence Michael S, Cibulskis Kristian, Thorner Aaron R, Van Hummelen Paul, Stemmer-Rachamimov Anat O, Batchelor Tracy T, Carter Scott L, Hoang Mai P, Santagata Sandro, Louis David N, Barker Fred G, Meyerson Matthew, Getz Gad, Brastianos Priscilla K, Cahill Daniel P

Abstract excerpt

Hemangioblastomas consist of 10-20% neoplastic "stromal" cells within a vascular tumor cell mass of reactive pericytes, endothelium and lymphocytes. Familial cases of central nervous system hemangioblastoma uniformly result from mutations in the Von Hippel-Lindau (VHL) gene. In contrast, inactivation of VHL has been previously observed in only a minority of sporadic hemangioblastomas, suggesting an alternative...

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PMID: 25589003
DOI: 10.1186/s40478-014-0167-x
PMCID: PMC4297409

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