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Molecular genetic diagnosis of Von Hippel-Lindau disease in familial pheochromocytoma

Lookup NU author(s): Professor Thomas Lennard

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Abstract

Inherited predisposition to phaeochromocytoma is seen in multiple endocrine neoplasia type 2 syndromes, von Hippel-Lindau (VHL) disease, and neurofibromatosis type 1. In addition familial phaeochromocytoma alone has been reported. To investigate the genetic basis for familial phaeochromocytoma alone, we screened three affected kindreds for mutations in the RET proto-oncogene and the VHL tumour suppressor gene. We did not detect MEN 2 associated RET mutations in any family, but missense VHL gene mutations (V155L and R238W) were identified in two kindreds with no clinical evidence of VHL disease. Patients with familial, multiple, or early onset phaeochromocytoma should be investigated for germline VHL and RET gene mutations as the molecular diagnosis of multisystem familial cancer syndromes enables appropriate counselling and screening to be provided.

Publication metadata

Author(s): Crossey PA, Eng C, Ginalskamalinowska M, Lennard TWJ , Wheeler DC, Ponder BAJ, Maher ER

Publication type: Note

Publication status: Published

Journal: Journal of Medical Genetics

Year: 1995

Volume: 32

Issue: 11

Pages: 885-886

Print publication date: 01/11/1995

ISSN (print): 0022-2593

ISSN (electronic): 1468-6244

URL: http://dx.doi.org/10.1136/jmg.32.11.885

DOI: 10.1136/jmg.32.11.885

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