Implications of Concurrent IDH1 and IDH2 Mutations on Survival in Glioma—A Case Report and Systematic Review

Both IDH1 (isocitrate dehydrogenase 1) and IDH2 (isocitrate dehydrogenase 2) mutations play a vital role in the development of gliomas through disruption of normal cellular metabolic processes. Here we describe a case of a patient with an IDH-mutant astrocytoma, in which both IDH1 and IDH2 mutations...

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Autores principales: Yuile, Alexander, Satgunaseelan, Laveniya, Wei, Joe, Kastelan, Marina, Back, Michael F., Lee, Maggie, Wei, Heng, Buckland, Michael E., Lee, Adrian, Wheeler, Helen R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Perspective
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9600580/
https://www.ncbi.nlm.nih.gov/pubmed/36286062
http://dx.doi.org/10.3390/cimb44100348
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author Yuile, Alexander
Satgunaseelan, Laveniya
Wei, Joe
Kastelan, Marina
Back, Michael F.
Lee, Maggie
Wei, Heng
Buckland, Michael E.
Lee, Adrian
Wheeler, Helen R.
author_facet Yuile, Alexander
Satgunaseelan, Laveniya
Wei, Joe
Kastelan, Marina
Back, Michael F.
Lee, Maggie
Wei, Heng
Buckland, Michael E.
Lee, Adrian
Wheeler, Helen R.
author_sort Yuile, Alexander
collection PubMed
description Both IDH1 (isocitrate dehydrogenase 1) and IDH2 (isocitrate dehydrogenase 2) mutations play a vital role in the development of gliomas through disruption of normal cellular metabolic processes. Here we describe a case of a patient with an IDH-mutant astrocytoma, in which both IDH1 and IDH2 mutations were detected within the same tumour. The patient remains disease-free, nine and a half years after her initial diagnosis. Interrogation of cancer genomic databases and a systematic review was undertaken, demonstrating the rarity of the co-occurrence of IDH1 and IDH2 mutations in a variety of cancer types, and in glioma specifically. Due to the favourable outcome observed in this patient, the potential effect of concurrent IDH1 and IDH2 mutations on survival was also investigated.
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spelling pubmed-96005802022-10-27 Implications of Concurrent IDH1 and IDH2 Mutations on Survival in Glioma—A Case Report and Systematic Review Yuile, Alexander Satgunaseelan, Laveniya Wei, Joe Kastelan, Marina Back, Michael F. Lee, Maggie Wei, Heng Buckland, Michael E. Lee, Adrian Wheeler, Helen R. Curr Issues Mol Biol Perspective Both IDH1 (isocitrate dehydrogenase 1) and IDH2 (isocitrate dehydrogenase 2) mutations play a vital role in the development of gliomas through disruption of normal cellular metabolic processes. Here we describe a case of a patient with an IDH-mutant astrocytoma, in which both IDH1 and IDH2 mutations were detected within the same tumour. The patient remains disease-free, nine and a half years after her initial diagnosis. Interrogation of cancer genomic databases and a systematic review was undertaken, demonstrating the rarity of the co-occurrence of IDH1 and IDH2 mutations in a variety of cancer types, and in glioma specifically. Due to the favourable outcome observed in this patient, the potential effect of concurrent IDH1 and IDH2 mutations on survival was also investigated. MDPI 2022-10-21 /pmc/articles/PMC9600580/ /pubmed/36286062 http://dx.doi.org/10.3390/cimb44100348 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Perspective
Yuile, Alexander
Satgunaseelan, Laveniya
Wei, Joe
Kastelan, Marina
Back, Michael F.
Lee, Maggie
Wei, Heng
Buckland, Michael E.
Lee, Adrian
Wheeler, Helen R.
Implications of Concurrent IDH1 and IDH2 Mutations on Survival in Glioma—A Case Report and Systematic Review
title Implications of Concurrent IDH1 and IDH2 Mutations on Survival in Glioma—A Case Report and Systematic Review
title_full Implications of Concurrent IDH1 and IDH2 Mutations on Survival in Glioma—A Case Report and Systematic Review
title_fullStr Implications of Concurrent IDH1 and IDH2 Mutations on Survival in Glioma—A Case Report and Systematic Review
title_full_unstemmed Implications of Concurrent IDH1 and IDH2 Mutations on Survival in Glioma—A Case Report and Systematic Review
title_short Implications of Concurrent IDH1 and IDH2 Mutations on Survival in Glioma—A Case Report and Systematic Review
title_sort implications of concurrent idh1 and idh2 mutations on survival in glioma—a case report and systematic review
topic Perspective
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9600580/
https://www.ncbi.nlm.nih.gov/pubmed/36286062
http://dx.doi.org/10.3390/cimb44100348
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