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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...

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Autores principales: Haider, Ali S., Ene, Chibawanye I., Palmisciano, Paolo, Haider, Maryam, Rao, Ganesh, Ballester, Leomar Y., Fuller, Gregory N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
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.
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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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