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

Spandana Brown | Zendy; Daniel Riconda | Zendy; Feibi Zheng | Zendy; Gilchrist L. Jackson | Zendy; Liye Suo | Zendy; Richard J. Robbins | Zendy

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

Author(s) -

Spandana Brown,

Daniel Riconda,

Feibi Zheng,

Gilchrist L. Jackson,

Liye Suo,

Richard J. Robbins

Publication year - 2020

Publication title -

journal of the endocrine society

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.046

H-Index - 20

ISSN - 2472-1972

DOI - 10.1210/jendso/bvaa020

Subject(s) - men1 , multiple endocrine neoplasia , germline , germline mutation , multiple endocrine neoplasia type 2 , genetics , medicine , cancer research , mutation , biology , gene

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.

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