Open AccessShould Endolymphatic Sac Tumors Be Considered Part of the Von Hippel-Lindau Complex? Pathology Case Report
Author(s) -
Robert E. Tibbs,
Alfred P. Bowles,
Frank A. Raila,
Jonathan D. Fratkin,
James B. Hutchins
Publication year - 1997
Publication title -
neurosurgery/neurosurgery online
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.485
H-Index - 34
eISSN - 1081-1281
pISSN - 0148-396X
DOI - 10.1097/00006123-199704000-00040
Subject(s) - von hippel–lindau disease , pathology , medicine , mutation , point mutation , population , endolymphatic sac , polymerase chain reaction , gene , cancer research , disease , genetics , biology , anatomy , inner ear , environmental health
Von Hippel-Lindau (vHL) disease is an inherited disorder characterized by numerous cystic and solid neoplasms. Because of the recent identification of the vHL gene, other investigators have demonstrated genetic mutations in this gene in several of the neoplasms associated with the disease. We describe a patient with an endolymphatic sac (ELS) tumor and vHL disease. The purpose of this study was to identify a similar genetic mutation within the vHL gene of the ELS tumor.