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

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

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

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 language	English (US)
Pages (from-to)	1-6
Number of pages	6
Journal	Journal of the Endocrine Society
Volume	4
Issue number	4
DOIs	https://doi.org/10.1210/JENDSO/BVAA020
State	Published - 2020

Keywords

Hyperparathyroidism
MEN1
MEN1
MEN2A
Medullary thyroid cancer
RET

ASJC Scopus subject areas

Endocrinology, Diabetes and Metabolism

Divisions

Endocrinology, Diabetes and Metabolism

Access to Document

10.1210/JENDSO/BVAA020

Cite this

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

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.",

keywords = "Hyperparathyroidism, MEN1, MEN1, MEN2A, Medullary thyroid cancer, RET",

author = "Brown, \{Spandana J.\} and Riconda, \{Daniel L.\} and Feibi Zheng and Jackson, \{Gilchrist L.\} and Liye Suo and Robbins, \{Richard J.\}",

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doi = "10.1210/JENDSO/BVAA020",

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T1 - Features of multiple endocrine neoplasia type 1 and 2A in a patient with both RET and MEN1 germline mutations

AU - Brown, Spandana J.

AU - Riconda, Daniel L.

AU - Zheng, Feibi

AU - Jackson, Gilchrist L.

AU - Suo, Liye

AU - Robbins, Richard J.

PY - 2020

Y1 - 2020

N2 - 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.

AB - 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.

KW - Hyperparathyroidism

KW - MEN1

KW - MEN2A

KW - Medullary thyroid cancer

KW - RET

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

Abstract

Keywords

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