Multiple endocrine neoplasia type 1 with a frameshift mutation in its gene accompanied by a giant cervical lipoma and multiple fatty deposits in the pancreas: case report

BACKGROUND: Multiple endocrine neoplasia type 1 (MEN1) is a syndrome characterized by pituitary neoplasia, primary hyperparathyroidism and pancreatic endocrine tumor. Here we show a case of MEN1 with a germline frameshift mutation in its gene accompanied by a giant cervical lipoma and multiple fatty...

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Autores principales: Fushimi, Yoshiro, Kamei, Shinji, Tatsumi, Fuminori, Sanada, Junpei, Shimoda, Masashi, Kimura, Tomohiko, Obata, Atsushi, Nakanishi, Shuhei, Kaku, Kohei, Mune, Tomoatsu, Kaneto, Hideaki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8359094/
https://www.ncbi.nlm.nih.gov/pubmed/34384417
http://dx.doi.org/10.1186/s12902-021-00821-7
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author Fushimi, Yoshiro
Kamei, Shinji
Tatsumi, Fuminori
Sanada, Junpei
Shimoda, Masashi
Kimura, Tomohiko
Obata, Atsushi
Nakanishi, Shuhei
Kaku, Kohei
Mune, Tomoatsu
Kaneto, Hideaki
author_facet Fushimi, Yoshiro
Kamei, Shinji
Tatsumi, Fuminori
Sanada, Junpei
Shimoda, Masashi
Kimura, Tomohiko
Obata, Atsushi
Nakanishi, Shuhei
Kaku, Kohei
Mune, Tomoatsu
Kaneto, Hideaki
author_sort Fushimi, Yoshiro
collection PubMed
description BACKGROUND: Multiple endocrine neoplasia type 1 (MEN1) is a syndrome characterized by pituitary neoplasia, primary hyperparathyroidism and pancreatic endocrine tumor. Here we show a case of MEN1 with a germline frameshift mutation in its gene accompanied by a giant cervical lipoma and multiple fatty deposits in the pancreas. CASE PRESENTATION: A 28-year-old man noticed the decreased visual acuity of both eyes and visited our institution. Since he was diagnosed as visual disturbance and brain computer tomography (CT) showed a mass in the pituitary fossa, he was hospitalized in our institution. Endoscopic trans-sphenoidal hypophysectomy and total parathyroidectomy with auto-transplantation were performed, and a giant cervical lipoma was resected. Furthermore, in genetic search, we found a germline frameshift mutation in MEN1 gene leading to the appearance of a new stop codon. CONCLUSIONS: We should bear in m ind that giant skin lipoma and multiple abnormal fatty deposits in the pancreas could be complicated with MEN1.
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spelling pubmed-83590942021-08-16 Multiple endocrine neoplasia type 1 with a frameshift mutation in its gene accompanied by a giant cervical lipoma and multiple fatty deposits in the pancreas: case report Fushimi, Yoshiro Kamei, Shinji Tatsumi, Fuminori Sanada, Junpei Shimoda, Masashi Kimura, Tomohiko Obata, Atsushi Nakanishi, Shuhei Kaku, Kohei Mune, Tomoatsu Kaneto, Hideaki BMC Endocr Disord Case Report BACKGROUND: Multiple endocrine neoplasia type 1 (MEN1) is a syndrome characterized by pituitary neoplasia, primary hyperparathyroidism and pancreatic endocrine tumor. Here we show a case of MEN1 with a germline frameshift mutation in its gene accompanied by a giant cervical lipoma and multiple fatty deposits in the pancreas. CASE PRESENTATION: A 28-year-old man noticed the decreased visual acuity of both eyes and visited our institution. Since he was diagnosed as visual disturbance and brain computer tomography (CT) showed a mass in the pituitary fossa, he was hospitalized in our institution. Endoscopic trans-sphenoidal hypophysectomy and total parathyroidectomy with auto-transplantation were performed, and a giant cervical lipoma was resected. Furthermore, in genetic search, we found a germline frameshift mutation in MEN1 gene leading to the appearance of a new stop codon. CONCLUSIONS: We should bear in m ind that giant skin lipoma and multiple abnormal fatty deposits in the pancreas could be complicated with MEN1. BioMed Central 2021-08-12 /pmc/articles/PMC8359094/ /pubmed/34384417 http://dx.doi.org/10.1186/s12902-021-00821-7 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/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/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://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
Fushimi, Yoshiro
Kamei, Shinji
Tatsumi, Fuminori
Sanada, Junpei
Shimoda, Masashi
Kimura, Tomohiko
Obata, Atsushi
Nakanishi, Shuhei
Kaku, Kohei
Mune, Tomoatsu
Kaneto, Hideaki
Multiple endocrine neoplasia type 1 with a frameshift mutation in its gene accompanied by a giant cervical lipoma and multiple fatty deposits in the pancreas: case report
title Multiple endocrine neoplasia type 1 with a frameshift mutation in its gene accompanied by a giant cervical lipoma and multiple fatty deposits in the pancreas: case report
title_full Multiple endocrine neoplasia type 1 with a frameshift mutation in its gene accompanied by a giant cervical lipoma and multiple fatty deposits in the pancreas: case report
title_fullStr Multiple endocrine neoplasia type 1 with a frameshift mutation in its gene accompanied by a giant cervical lipoma and multiple fatty deposits in the pancreas: case report
title_full_unstemmed Multiple endocrine neoplasia type 1 with a frameshift mutation in its gene accompanied by a giant cervical lipoma and multiple fatty deposits in the pancreas: case report
title_short Multiple endocrine neoplasia type 1 with a frameshift mutation in its gene accompanied by a giant cervical lipoma and multiple fatty deposits in the pancreas: case report
title_sort multiple endocrine neoplasia type 1 with a frameshift mutation in its gene accompanied by a giant cervical lipoma and multiple fatty deposits in the pancreas: case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8359094/
https://www.ncbi.nlm.nih.gov/pubmed/34384417
http://dx.doi.org/10.1186/s12902-021-00821-7
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