Features of multiple endocrine neoplasia type 1 and 2A in a patient with both RET and MEN1 germline mutations

Spandana J. Brown, Daniel L. Riconda, Feibi Zheng, Gilchrist L. Jackson, Liye Suo, Richard J. Robbins

Research output: Contribution to journalArticle

Abstract

The coexistence of multiple endocrine neoplasia type 1 (MEN1) and type 2A (MEN2A) is a rare occurrence and has been reported only twice in the literature. We present a patient with primary hyperparathyroidism and medullary thyroid cancer with strong family history of both MEN1- A nd MEN2A-associated conditions. Genetic testing showed the patient had a novel MEN1 loss-of-function mutation, c0.525_526insTT (p.Ala176Leufs*10), and an uncommon Cys630Tyr RET mutation. This case highlights the importance of obtaining a detailed family history when heritable endocrine disorders are suspected.

Original languageEnglish (US)
Pages (from-to)1-6
Number of pages6
JournalJournal of the Endocrine Society
Volume4
Issue number4
DOIs
StatePublished - 2020

Keywords

  • Hyperparathyroidism
  • Medullary thyroid cancer
  • MEN1
  • MEN1
  • MEN2A
  • RET

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism

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