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

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...

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Autores principales: Brown, Spandana J, Riconda, Daniel L, Zheng, Feibi, Jackson, Gilchrist L, Suo, Liye, Robbins, Richard J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7067549/
https://www.ncbi.nlm.nih.gov/pubmed/32190804
http://dx.doi.org/10.1210/jendso/bvaa020
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author Brown, Spandana J
Riconda, Daniel L
Zheng, Feibi
Jackson, Gilchrist L
Suo, Liye
Robbins, Richard J
author_facet Brown, Spandana J
Riconda, Daniel L
Zheng, Feibi
Jackson, Gilchrist L
Suo, Liye
Robbins, Richard J
author_sort Brown, Spandana J
collection PubMed
description 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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spelling pubmed-70675492020-03-18 Features of Multiple Endocrine Neoplasia Type 1 and 2A in a Patient with Both RET and MEN1 Germline Mutations Brown, Spandana J Riconda, Daniel L Zheng, Feibi Jackson, Gilchrist L Suo, Liye Robbins, Richard J J Endocr Soc Case Report 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. Oxford University Press 2020-02-18 /pmc/articles/PMC7067549/ /pubmed/32190804 http://dx.doi.org/10.1210/jendso/bvaa020 Text en © Endocrine Society 2020. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs licence (http://creativecommons.org/licenses/by-nc-nd/4.0/), which permits non-commercial reproduction and distribution of the work, in any medium, provided the original work is not altered or transformed in any way, and that the work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle Case Report
Brown, Spandana J
Riconda, Daniel L
Zheng, Feibi
Jackson, Gilchrist L
Suo, Liye
Robbins, Richard J
Features of Multiple Endocrine Neoplasia Type 1 and 2A in a Patient with Both RET and MEN1 Germline Mutations
title Features of Multiple Endocrine Neoplasia Type 1 and 2A in a Patient with Both RET and MEN1 Germline Mutations
title_full Features of Multiple Endocrine Neoplasia Type 1 and 2A in a Patient with Both RET and MEN1 Germline Mutations
title_fullStr Features of Multiple Endocrine Neoplasia Type 1 and 2A in a Patient with Both RET and MEN1 Germline Mutations
title_full_unstemmed Features of Multiple Endocrine Neoplasia Type 1 and 2A in a Patient with Both RET and MEN1 Germline Mutations
title_short Features of Multiple Endocrine Neoplasia Type 1 and 2A in a Patient with Both RET and MEN1 Germline Mutations
title_sort features of multiple endocrine neoplasia type 1 and 2a in a patient with both ret and men1 germline mutations
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7067549/
https://www.ncbi.nlm.nih.gov/pubmed/32190804
http://dx.doi.org/10.1210/jendso/bvaa020
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