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A germline c.1546dupC MEN1 mutation in an MEN1 family: A case report

RATIONALE: Multiple endocrine neoplasia type 1 (MEN1) is a rare tumor syndrome with an autosomal dominant inheritance, and genetic testing for MEN1 gene is important for both affected individuals and their relatives. We present a 2-person family affected by a germline c.1546dupC MEN1 mutation, and o...

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Autores principales: Cho, Yoon Young, Chung, Yun Jae
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8238345/
https://www.ncbi.nlm.nih.gov/pubmed/34160414
http://dx.doi.org/10.1097/MD.0000000000026382
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author Cho, Yoon Young
Chung, Yun Jae
author_facet Cho, Yoon Young
Chung, Yun Jae
author_sort Cho, Yoon Young
collection PubMed
description RATIONALE: Multiple endocrine neoplasia type 1 (MEN1) is a rare tumor syndrome with an autosomal dominant inheritance, and genetic testing for MEN1 gene is important for both affected individuals and their relatives. We present a 2-person family affected by a germline c.1546dupC MEN1 mutation, and one of them had a full-spectrum of MEN-related endocrine tumors. PATIENT CONCERNS: A female patient aged 32 years presented with jejunal ulcer perforation due to gastrinoma. DIAGNOSES: We conducted genetic analysis and extensive biochemical/radiological evaluation for detecting other endocrine tumors. Multiple pancreatic neuroendocrine tumors (NETs), prolactinoma and primary hyperparathyroidism were diagnosed, and a frame-shift mutation, NM_130799.1:c.1546dupC (p.Arg516Profs∗15), was detected. One daughter of the proband, aged 12 years, had the same mutation for MEN1. INTERVENTION: She underwent pancreatic surgery for pancreatic NETs and total parathyroidectomy for primary hyperparathyroidism. OUTCOMES: After pancreatic surgery, long-term symptoms of epigastric soreness, acid belching, sweating, and palpitation in fasting were improved. Hypercalcemia was improved after parathyroidectomy and she was supplemented with oral calcium and vitamin D. Her daughter showed normal biochemical surveillance until 15 years of age. LESSONS: We report 2 people in a family affected by MEN1 with the heterozygous germline c.1546dupC mutation, a variant that should be surveilled for early development of full-blown MEN1-associated endocrine tumors.
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spelling pubmed-82383452021-07-06 A germline c.1546dupC MEN1 mutation in an MEN1 family: A case report Cho, Yoon Young Chung, Yun Jae Medicine (Baltimore) 4300 RATIONALE: Multiple endocrine neoplasia type 1 (MEN1) is a rare tumor syndrome with an autosomal dominant inheritance, and genetic testing for MEN1 gene is important for both affected individuals and their relatives. We present a 2-person family affected by a germline c.1546dupC MEN1 mutation, and one of them had a full-spectrum of MEN-related endocrine tumors. PATIENT CONCERNS: A female patient aged 32 years presented with jejunal ulcer perforation due to gastrinoma. DIAGNOSES: We conducted genetic analysis and extensive biochemical/radiological evaluation for detecting other endocrine tumors. Multiple pancreatic neuroendocrine tumors (NETs), prolactinoma and primary hyperparathyroidism were diagnosed, and a frame-shift mutation, NM_130799.1:c.1546dupC (p.Arg516Profs∗15), was detected. One daughter of the proband, aged 12 years, had the same mutation for MEN1. INTERVENTION: She underwent pancreatic surgery for pancreatic NETs and total parathyroidectomy for primary hyperparathyroidism. OUTCOMES: After pancreatic surgery, long-term symptoms of epigastric soreness, acid belching, sweating, and palpitation in fasting were improved. Hypercalcemia was improved after parathyroidectomy and she was supplemented with oral calcium and vitamin D. Her daughter showed normal biochemical surveillance until 15 years of age. LESSONS: We report 2 people in a family affected by MEN1 with the heterozygous germline c.1546dupC mutation, a variant that should be surveilled for early development of full-blown MEN1-associated endocrine tumors. Lippincott Williams & Wilkins 2021-06-25 /pmc/articles/PMC8238345/ /pubmed/34160414 http://dx.doi.org/10.1097/MD.0000000000026382 Text en Copyright © 2021 the Author(s). Published by Wolters Kluwer Health, Inc. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the Creative Commons Attribution License 4.0 (CCBY), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. http://creativecommons.org/licenses/by/4.0 (https://creativecommons.org/licenses/by/4.0/)
spellingShingle 4300
Cho, Yoon Young
Chung, Yun Jae
A germline c.1546dupC MEN1 mutation in an MEN1 family: A case report
title A germline c.1546dupC MEN1 mutation in an MEN1 family: A case report
title_full A germline c.1546dupC MEN1 mutation in an MEN1 family: A case report
title_fullStr A germline c.1546dupC MEN1 mutation in an MEN1 family: A case report
title_full_unstemmed A germline c.1546dupC MEN1 mutation in an MEN1 family: A case report
title_short A germline c.1546dupC MEN1 mutation in an MEN1 family: A case report
title_sort germline c.1546dupc men1 mutation in an men1 family: a case report
topic 4300
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8238345/
https://www.ncbi.nlm.nih.gov/pubmed/34160414
http://dx.doi.org/10.1097/MD.0000000000026382
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