A RET mutation with decreased penetrance in the family of a patient with a "sporadic" pheochromocytoma

Seth M. Arum, Patricia L.M. Dahia, Katherine Schneider, Lewis E. Braverman

Research output: Contribution to journalArticlepeer-review

8 Scopus citations

Abstract

We present the case of a 38-yr-old man with a sporadic, multifocal pheochromocytoma and paraganglioma who was discovered to carry a Y791F germline mutation in exon 13 of the RET proto-oncogene. This mutation was found in his 65-yr-old mother and his 86-yr-old maternal grandmother. Neither of them had either biochemical evidence of pheochromocytoma or medullary thyroid carcinoma. The patient had a prophylactic thyroidectomy, which revealed mild C-cell hyperplasia. This case brings to discussion several issues: (1) the benefit of screening patients with apparently sporadic pheochromocytomas for genetic mutations; (2) the management of patients and families with "lower- risk" RET mutations; and (3) the possibility that lower-penetrance RET mutations may contribute to the list of causes of familial pheochromocytomas.

Original languageEnglish (US)
Pages (from-to)193-198
Number of pages6
JournalEndocrine
Volume28
Issue number2
DOIs
StatePublished - Nov 1 2005
Externally publishedYes

Keywords

  • MEN2
  • Pheochromocytoma genetics
  • RET mutation

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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