A novel Von Hippel-Lindau point mutation presents as apparently sporadic pheochromocytoma

Thereasa A. Rich, Eric Jonasch, Surena Matin, Steven G. Waguespack, Dan S. Gombos, Libero Santarpia, Catherine Stolle, Camilo Jimenez

Research output: Contribution to journalArticlepeer-review

Abstract

Von Hippel Lindau disease is a common cause of apparently sporadic pheochromocytomas. Herein, we describe a 20-year-old man with an apparently sporadic pheochromocytoma associated with a novel, relatively conservative germline Gly104Val VHL gene mutation, which is localized within exon 1 of the VHL gene corresponding to the β-domain of the VHL protein (pVHL). The nearly asymptomatic patient's father also carries the same mutation. Similar to other mutations localized in the same codon, the Gly104Val VHL mutation seems to have an attenuated disease phenotype.

Original languageEnglish
Pages (from-to)642-646
Number of pages5
JournalCancer Investigation
Volume26
Issue number6
DOIs
Publication statusPublished - Jul 2008

Keywords

  • Novel mutation
  • Pheochromocytoma
  • Von Hippel-Lindau disease

ASJC Scopus subject areas

  • Cancer Research
  • Oncology

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