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

doi:10.1080/07357900701802527

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 journal › Article › peer-review

2 Scopus citations

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 language	English (US)
Pages (from-to)	642-646
Number of pages	5
Journal	Cancer Investigation
Volume	26
Issue number	6
DOIs	https://doi.org/10.1080/07357900701802527
State	Published - Jul 2008

Keywords

Novel mutation
Pheochromocytoma
Von Hippel-Lindau disease

ASJC Scopus subject areas

Cancer Research
Oncology

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10.1080/07357900701802527

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title = "A novel Von Hippel-Lindau point mutation presents as apparently sporadic pheochromocytoma",

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.",

keywords = "Novel mutation, Pheochromocytoma, Von Hippel-Lindau disease",

author = "Rich, {Thereasa A.} and Eric Jonasch and Surena Matin and Waguespack, {Steven G.} and Gombos, {Dan S.} and Libero Santarpia and Catherine Stolle and Camilo Jimenez",

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T1 - A novel Von Hippel-Lindau point mutation presents as apparently sporadic pheochromocytoma

AU - Rich, Thereasa A.

AU - Jonasch, Eric

AU - Matin, Surena

AU - Waguespack, Steven G.

AU - Gombos, Dan S.

AU - Santarpia, Libero

AU - Stolle, Catherine

AU - Jimenez, Camilo

PY - 2008/7

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N2 - 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.

AB - 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.

KW - Novel mutation

KW - Pheochromocytoma

KW - Von Hippel-Lindau disease

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

Abstract

Keywords

ASJC Scopus subject areas

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