Identification of Isocitrate Dehydrogenase 2 (IDH2) Mutation in Carotid Body Paraganglioma

Carotid body paragangliomas (PGLs) are rare neuroendocrine tumors that develop within the adventitia of the medial aspect of the carotid bifurcation. Carotid body PGLs comprise about 65% of head and neck paragangliomas, however, their genetic background remains elusive. In the present study, we repo...

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Autores principales: Lang, Fengchao, Jha, Abhishek, Meuter, Leah, Pacak, Karel, Yang, Chunzhang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8488436/
https://www.ncbi.nlm.nih.gov/pubmed/34616365
http://dx.doi.org/10.3389/fendo.2021.731096
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author Lang, Fengchao
Jha, Abhishek
Meuter, Leah
Pacak, Karel
Yang, Chunzhang
author_facet Lang, Fengchao
Jha, Abhishek
Meuter, Leah
Pacak, Karel
Yang, Chunzhang
author_sort Lang, Fengchao
collection PubMed
description Carotid body paragangliomas (PGLs) are rare neuroendocrine tumors that develop within the adventitia of the medial aspect of the carotid bifurcation. Carotid body PGLs comprise about 65% of head and neck paragangliomas, however, their genetic background remains elusive. In the present study, we report one case of carotid body PGL with a somatic mutation in the gene encoding isocitrate dehydrogenase 2 (IDH2). The missense mutation in IDH2 resulted in R172G amino acid substitution, which exhibits neomorphic activity and production of D-2-hydroxyglutarate.
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spelling pubmed-84884362021-10-05 Identification of Isocitrate Dehydrogenase 2 (IDH2) Mutation in Carotid Body Paraganglioma Lang, Fengchao Jha, Abhishek Meuter, Leah Pacak, Karel Yang, Chunzhang Front Endocrinol (Lausanne) Endocrinology Carotid body paragangliomas (PGLs) are rare neuroendocrine tumors that develop within the adventitia of the medial aspect of the carotid bifurcation. Carotid body PGLs comprise about 65% of head and neck paragangliomas, however, their genetic background remains elusive. In the present study, we report one case of carotid body PGL with a somatic mutation in the gene encoding isocitrate dehydrogenase 2 (IDH2). The missense mutation in IDH2 resulted in R172G amino acid substitution, which exhibits neomorphic activity and production of D-2-hydroxyglutarate. Frontiers Media S.A. 2021-09-20 /pmc/articles/PMC8488436/ /pubmed/34616365 http://dx.doi.org/10.3389/fendo.2021.731096 Text en Copyright © 2021 Lang, Jha, Meuter, Pacak and Yang https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Endocrinology
Lang, Fengchao
Jha, Abhishek
Meuter, Leah
Pacak, Karel
Yang, Chunzhang
Identification of Isocitrate Dehydrogenase 2 (IDH2) Mutation in Carotid Body Paraganglioma
title Identification of Isocitrate Dehydrogenase 2 (IDH2) Mutation in Carotid Body Paraganglioma
title_full Identification of Isocitrate Dehydrogenase 2 (IDH2) Mutation in Carotid Body Paraganglioma
title_fullStr Identification of Isocitrate Dehydrogenase 2 (IDH2) Mutation in Carotid Body Paraganglioma
title_full_unstemmed Identification of Isocitrate Dehydrogenase 2 (IDH2) Mutation in Carotid Body Paraganglioma
title_short Identification of Isocitrate Dehydrogenase 2 (IDH2) Mutation in Carotid Body Paraganglioma
title_sort identification of isocitrate dehydrogenase 2 (idh2) mutation in carotid body paraganglioma
topic Endocrinology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8488436/
https://www.ncbi.nlm.nih.gov/pubmed/34616365
http://dx.doi.org/10.3389/fendo.2021.731096
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