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Concurrent IDH1 and IDH2 mutations in glioblastoma: A case report
Isocitrate dehydrogenase (IDH) mutations are cornerstone diagnostic features in glioma classification. IDH mutations are typically characterized by mutually exclusive amino acid substitutions in the genes encoding for the IDH1 and the IDH2 enzyme isoforms. We report our institutional case of a diffu...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10108912/ https://www.ncbi.nlm.nih.gov/pubmed/37077830 http://dx.doi.org/10.3389/fonc.2023.1071792 |
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author | Haider, Ali S. Ene, Chibawanye I. Palmisciano, Paolo Haider, Maryam Rao, Ganesh Ballester, Leomar Y. Fuller, Gregory N. |
author_facet | Haider, Ali S. Ene, Chibawanye I. Palmisciano, Paolo Haider, Maryam Rao, Ganesh Ballester, Leomar Y. Fuller, Gregory N. |
author_sort | Haider, Ali S. |
collection | PubMed |
description | Isocitrate dehydrogenase (IDH) mutations are cornerstone diagnostic features in glioma classification. IDH mutations are typically characterized by mutually exclusive amino acid substitutions in the genes encoding for the IDH1 and the IDH2 enzyme isoforms. We report our institutional case of a diffuse astrocytoma with progression to secondary glioblastoma and concurrent IDH1/IDH2 mutations. A 49-year-old male underwent a subtotal resection of a lobular lesion within the right insula in 2013, revealing a WHO grade 3 anaplastic oligoastrocytoma, IDH1 mutated, 1p19q intact. Symptomatic tumor progression was suspected in 2018, leading to a surgical tumor biopsy that demonstrated WHO grade 4 IDH1 and IDH2 mutant diffuse astrocytoma. The patient subsequently underwent surgical resection followed by medical management and finally died in 2021. Although concurrent IDH1/IDH2 mutations have been rarely reported in the current literature, further study is required to better define their impact on patients’ prognoses and their response to targeted therapies. |
format | Online Article Text |
id | pubmed-10108912 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-101089122023-04-18 Concurrent IDH1 and IDH2 mutations in glioblastoma: A case report Haider, Ali S. Ene, Chibawanye I. Palmisciano, Paolo Haider, Maryam Rao, Ganesh Ballester, Leomar Y. Fuller, Gregory N. Front Oncol Oncology Isocitrate dehydrogenase (IDH) mutations are cornerstone diagnostic features in glioma classification. IDH mutations are typically characterized by mutually exclusive amino acid substitutions in the genes encoding for the IDH1 and the IDH2 enzyme isoforms. We report our institutional case of a diffuse astrocytoma with progression to secondary glioblastoma and concurrent IDH1/IDH2 mutations. A 49-year-old male underwent a subtotal resection of a lobular lesion within the right insula in 2013, revealing a WHO grade 3 anaplastic oligoastrocytoma, IDH1 mutated, 1p19q intact. Symptomatic tumor progression was suspected in 2018, leading to a surgical tumor biopsy that demonstrated WHO grade 4 IDH1 and IDH2 mutant diffuse astrocytoma. The patient subsequently underwent surgical resection followed by medical management and finally died in 2021. Although concurrent IDH1/IDH2 mutations have been rarely reported in the current literature, further study is required to better define their impact on patients’ prognoses and their response to targeted therapies. Frontiers Media S.A. 2023-04-03 /pmc/articles/PMC10108912/ /pubmed/37077830 http://dx.doi.org/10.3389/fonc.2023.1071792 Text en Copyright © 2023 Haider, Ene, Palmisciano, Haider, Rao, Ballester and Fuller 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 | Oncology Haider, Ali S. Ene, Chibawanye I. Palmisciano, Paolo Haider, Maryam Rao, Ganesh Ballester, Leomar Y. Fuller, Gregory N. Concurrent IDH1 and IDH2 mutations in glioblastoma: A case report |
title | Concurrent IDH1 and IDH2 mutations in glioblastoma: A case report |
title_full | Concurrent IDH1 and IDH2 mutations in glioblastoma: A case report |
title_fullStr | Concurrent IDH1 and IDH2 mutations in glioblastoma: A case report |
title_full_unstemmed | Concurrent IDH1 and IDH2 mutations in glioblastoma: A case report |
title_short | Concurrent IDH1 and IDH2 mutations in glioblastoma: A case report |
title_sort | concurrent idh1 and idh2 mutations in glioblastoma: a case report |
topic | Oncology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10108912/ https://www.ncbi.nlm.nih.gov/pubmed/37077830 http://dx.doi.org/10.3389/fonc.2023.1071792 |
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