Clinical Features of a Family with Multiple Endocrine Neoplasia Type 2A Caused by the D631Y RET Mutation

Naykky Singh Ospina, Spyridoula Maraka, Diane Donegan, John C. Morris

Research output: Contribution to journalArticle

Abstract

We describe a family with multiple endocrine neoplasia type 2A (MEN2A) caused by the D631Y RET mutation resulting in an atypical phenotype. The index case was a 24-year-old man with history of recurrent anaplastic ependymoma incidentally found to have the D631Y RET mutation. At first assessment, four family members had evidence of large pheochromocytomas. One patient was found to have micromedullary thyroid cancer at 79 years of age. None of the patients had primary hyperparathyroidism. Patients with MEN2A caused by a D631Y RET mutation most commonly present with pheochromocytomas. Medullary thyroid cancer is a less common part of the syndrome when compared with other RET mutations.

Original languageEnglish (US)
Pages (from-to)1332-1334
Number of pages3
JournalThyroid
Volume27
Issue number10
DOIs
StatePublished - Oct 1 2017

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Keywords

  • D631Y mutation
  • medullary thyroid cancer
  • multiple endocrine neoplasia type 2
  • pheochromocytoma

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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