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

doi:10.1210/jendso/bvaa020

Features of Multiple Endocrine Neoplasia Type 1 and 2A in a Patient with Both RET and MEN1 Germline Mutations

J Endocr Soc. 2020 Feb 18;4(4):bvaa020. doi: 10.1210/jendso/bvaa020. eCollection 2020 Apr 1.

Authors

Spandana J Brown¹, Daniel L Riconda², Feibi Zheng³, Gilchrist L Jackson³, Liye Suo⁴, Richard J Robbins¹

Affiliations

¹ Department of Medicine, Houston Methodist Hospital, Houston, TX, and Weill Cornell Medicine, New York, NY.
² Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
³ Department of Surgery, Houston Methodist Hospital, Houston, TX, and Weill Cornell Medicine, New York, NY.
⁴ Department of Pathology & Genomic Medicine, Houston Methodist Hospital, Houston, TX, and Weill Cornell Medicine, New York, NY.

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- and 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.

Keywords: MEN1; MEN1; MEN2A; RET; hyperparathyroidism; medullary thyroid cancer.

Publication types

Case Reports