Cargando…
p.L105Vfs mutation in a family with thymic neuroendocrine tumor combined with MEN1: a case report
BACKGROUND: Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant disorder arising from mutations of the MEN1 tumor suppressor gene on chromosome 11q13; MEN1 is characterized by the development of neuroendocrine tumors, including those of the parathyroid, gastrointestinal endocrine...
Autores principales: | , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7055077/ https://www.ncbi.nlm.nih.gov/pubmed/32126984 http://dx.doi.org/10.1186/s12883-020-01659-7 |
_version_ | 1783503303448985600 |
---|---|
author | Zheng, Hongjuan Zhou, Shishi Tang, Wanfen Wang, Qinghua Zhang, Xia Jin, Xiayun Yuan, Ying Fu, Jianfei |
author_facet | Zheng, Hongjuan Zhou, Shishi Tang, Wanfen Wang, Qinghua Zhang, Xia Jin, Xiayun Yuan, Ying Fu, Jianfei |
author_sort | Zheng, Hongjuan |
collection | PubMed |
description | BACKGROUND: Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant disorder arising from mutations of the MEN1 tumor suppressor gene on chromosome 11q13; MEN1 is characterized by the development of neuroendocrine tumors, including those of the parathyroid, gastrointestinal endocrine tissue and anterior pituitary. Additionally, thymic neuroendocrine tumors in MEN1 are also rarely reported. CASE PRESENTATION: This case report observed a family that presented with MEN1 p.L105Vfs mutation, and two of the family members had been diagnosed with thymic neuroendocrine tumor combined with MEN1. To the best of our knowledge, this is the first time such a mutation in the MEN1 gene has been reported. The proband presented with thymic neuroendocrine tumor, parathyroid adenoma and rectum adenocarcinoma. The son of the proband presented with thymic neuroendocrine tumor, gastrinoma, hypophysoma and parathyroid adenoma. Genetic testing revealed the frameshift mutation p.L105Vfs, leading to the identification of one carrier in the pedigree (the patient’s younger sister). The proband then underwent parathyroidectomy at the age of 26 years (in 1980) for a parathyroid adenoma. Subsequently, the patient underwent thymectomy, radiotherapy and chemotherapy. The patient is now 64 years old, still alive and still undergoing Lanreotide therapy. CONCLUSION: Thymic neuroendocrine MEN1 is rare, but it accounts for almost 20% of MEN1-associated mortality. Consequently, we should focus on regular clinical screening of the thymus in MEN1 patients. |
format | Online Article Text |
id | pubmed-7055077 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-70550772020-03-10 p.L105Vfs mutation in a family with thymic neuroendocrine tumor combined with MEN1: a case report Zheng, Hongjuan Zhou, Shishi Tang, Wanfen Wang, Qinghua Zhang, Xia Jin, Xiayun Yuan, Ying Fu, Jianfei BMC Neurol Case Report BACKGROUND: Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant disorder arising from mutations of the MEN1 tumor suppressor gene on chromosome 11q13; MEN1 is characterized by the development of neuroendocrine tumors, including those of the parathyroid, gastrointestinal endocrine tissue and anterior pituitary. Additionally, thymic neuroendocrine tumors in MEN1 are also rarely reported. CASE PRESENTATION: This case report observed a family that presented with MEN1 p.L105Vfs mutation, and two of the family members had been diagnosed with thymic neuroendocrine tumor combined with MEN1. To the best of our knowledge, this is the first time such a mutation in the MEN1 gene has been reported. The proband presented with thymic neuroendocrine tumor, parathyroid adenoma and rectum adenocarcinoma. The son of the proband presented with thymic neuroendocrine tumor, gastrinoma, hypophysoma and parathyroid adenoma. Genetic testing revealed the frameshift mutation p.L105Vfs, leading to the identification of one carrier in the pedigree (the patient’s younger sister). The proband then underwent parathyroidectomy at the age of 26 years (in 1980) for a parathyroid adenoma. Subsequently, the patient underwent thymectomy, radiotherapy and chemotherapy. The patient is now 64 years old, still alive and still undergoing Lanreotide therapy. CONCLUSION: Thymic neuroendocrine MEN1 is rare, but it accounts for almost 20% of MEN1-associated mortality. Consequently, we should focus on regular clinical screening of the thymus in MEN1 patients. BioMed Central 2020-03-04 /pmc/articles/PMC7055077/ /pubmed/32126984 http://dx.doi.org/10.1186/s12883-020-01659-7 Text en © The Author(s) 2020 Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Case Report Zheng, Hongjuan Zhou, Shishi Tang, Wanfen Wang, Qinghua Zhang, Xia Jin, Xiayun Yuan, Ying Fu, Jianfei p.L105Vfs mutation in a family with thymic neuroendocrine tumor combined with MEN1: a case report |
title | p.L105Vfs mutation in a family with thymic neuroendocrine tumor combined with MEN1: a case report |
title_full | p.L105Vfs mutation in a family with thymic neuroendocrine tumor combined with MEN1: a case report |
title_fullStr | p.L105Vfs mutation in a family with thymic neuroendocrine tumor combined with MEN1: a case report |
title_full_unstemmed | p.L105Vfs mutation in a family with thymic neuroendocrine tumor combined with MEN1: a case report |
title_short | p.L105Vfs mutation in a family with thymic neuroendocrine tumor combined with MEN1: a case report |
title_sort | p.l105vfs mutation in a family with thymic neuroendocrine tumor combined with men1: a case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7055077/ https://www.ncbi.nlm.nih.gov/pubmed/32126984 http://dx.doi.org/10.1186/s12883-020-01659-7 |
work_keys_str_mv | AT zhenghongjuan pl105vfsmutationinafamilywiththymicneuroendocrinetumorcombinedwithmen1acasereport AT zhoushishi pl105vfsmutationinafamilywiththymicneuroendocrinetumorcombinedwithmen1acasereport AT tangwanfen pl105vfsmutationinafamilywiththymicneuroendocrinetumorcombinedwithmen1acasereport AT wangqinghua pl105vfsmutationinafamilywiththymicneuroendocrinetumorcombinedwithmen1acasereport AT zhangxia pl105vfsmutationinafamilywiththymicneuroendocrinetumorcombinedwithmen1acasereport AT jinxiayun pl105vfsmutationinafamilywiththymicneuroendocrinetumorcombinedwithmen1acasereport AT yuanying pl105vfsmutationinafamilywiththymicneuroendocrinetumorcombinedwithmen1acasereport AT fujianfei pl105vfsmutationinafamilywiththymicneuroendocrinetumorcombinedwithmen1acasereport |