Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas

Charis Eng, Paul A. Crossey, Lois M. Mulligan, Catherine S. Healey, Carol Houghton, Amanda Prowse, Shern L. Chew, Patricia L.M. Dahia, Jeffrey L.H.O. Riordan, Sergio P.A. Toledo, Darrin P. Smith, Eamonn R. Maher, Bruce A.J. Ponder

Research output: Contribution to journalArticlepeer-review

162 Scopus citations

Abstract

Phaeochromocytomas may occur sporadically, or as part of the inherited cancer syndromes multiple endocrine neoplasia (MEN) type 2, von Hippel-Lindau disease (VHL), and, rarely, in type 1 neurofibromatosis. In MEN 2, germline missense mutations have been found in one of eight codons within exons 10, 11, 13, 14, and 16 of the RET proto-oncogene. In VHL, germline mutations within one of the three exons are responsible for the majority of cases. To determine if somatic mutations similar to those seen in the germline in MEN 2 or VHL disease play a role in the pathogenesis of sporadic or familial phaeochromocytomas, we analysed 48 sporadic tumours and tumours from 17 MEN 2 and five VHL patients for mutations in RET exons 9, 10, 11, 13, 14, 15, and 16, and the entire coding sequence of VHL. Five of 48 sporadic phaeochromocytomas had RET mutations within exons 10, 11, and 16. Of these, one was proven to be germline and two were proven to be somatic mutations. Four of 48 had VHL mutations; these included both the bilateral cases in the series (one was proven to be a germline mutation) and two others, of which one was proven somatic.

Original languageEnglish (US)
Pages (from-to)934-937
Number of pages4
JournalJournal of medical genetics
Volume32
Issue number12
DOIs
StatePublished - 1995

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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