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Three novel VHL germline mutations in Korean patients with von Hippel-Lindau disease and pheochromocytomas.

Abstract
Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited tumor syndrome associated with germline mutations in the VHL gene. VHL disease, as well as several other cancer syndromes, has been associated with an increased risk of pheochromocytomas, which are catecholamine-secreting tumors of the adrenal gland. VHL disease genotype-phenotype correlations have been well established based on the type of mutations in the VHL gene. However, although many groups have reported VHL germline mutations in different countries, no previous report has described VHL gene mutations in VHL disease and/or pheochromocytoma patients in Korea. In this study, we used direct sequencing to investigate VHL germline mutations in Korean patients with VHL disease or pheochromocytomas (11 VHL patients and 3 additional members from 7 families, 2 patients from 1 family with familial pheochromocytoma, and 2 cases of isolated pheochromocytoma). We found a total of 7 VHL germline mutations (6 missense and 1 frameshift), 3 of which were novel (323_324delGC, 355T>C and 361G>A). No VHL germline mutation was found in the 2 patients with isolated pheochromocytomas and paragangliomas. This study provides informative data for VHL germline mutations and VHL-related phenotypes in Korea.
AuthorsHio Chung Kang, Il-Jin Kim, Jae-Hyun Park, Yong Shin, Sang-Geun Jang, Sun-A Ahn, Hye-Won Park, Sun-Kyung Lim, Seung Keun Oh, Dae Jung Kim, Kwan Woo Lee, Young-Sik Choi, Young Joo Park, Min Ro Lee, Duck-Woo Kim, Jae-Gahb Park
JournalOncology reports (Oncol Rep) Vol. 14 Issue 4 Pg. 879-83 (Oct 2005) ISSN: 1021-335X [Print] Greece
PMID16142346 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Catecholamines
  • Von Hippel-Lindau Tumor Suppressor Protein
  • VHL protein, human
Topics
  • Adrenal Gland Neoplasms (genetics, metabolism)
  • Adult
  • Catecholamines (metabolism)
  • DNA Mutational Analysis
  • Female
  • Frameshift Mutation
  • Genotype
  • Germ-Line Mutation
  • Humans
  • Korea
  • Male
  • Middle Aged
  • Models, Genetic
  • Mutation
  • Mutation, Missense
  • Paraganglioma (pathology)
  • Pedigree
  • Phenotype
  • Pheochromocytoma (genetics, pathology)
  • Polymerase Chain Reaction
  • Von Hippel-Lindau Tumor Suppressor Protein (genetics)

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