Features of Multiple Endocrine Neoplasia Type 1 and 2A in a Patient with Both and Germline Mutations.
作者信息
Brown Spandana J, Riconda Daniel L, Zheng Feibi, Jackson Gilchrist L, Suo Liye, Robbins Richard J
机构信息
Department of Medicine, Houston Methodist Hospital, Houston, TX, and Weill Cornell Medicine, New York, NY.
Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
出版信息
J Endocr Soc. 2020 Feb 18;4(4):bvaa020. doi: 10.1210/jendso/bvaa020. eCollection 2020 Apr 1.
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 loss-of-function mutation, c0.525_526insTT (p.Ala176Leufs*10), and an uncommon Cys630Tyr mutation. This case highlights the importance of obtaining a detailed family history when heritable endocrine disorders are suspected.
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