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. 2022 Oct 21;44(10):5117-5125.
doi: 10.3390/cimb44100348.

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

Alexander Yuile  1   2   3 , Laveniya Satgunaseelan  2   4 , Joe Wei  1   2 , Marina Kastelan  1   3 , Michael F Back  1   2   3 , Maggie Lee  2   4 , Heng Wei  2   4 , Michael E Buckland  2   4 , Adrian Lee  1   2   3 , Helen R Wheeler  1   2   3
Affiliations

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

Alexander Yuile et al. Curr Issues Mol Biol. .

Abstract

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.

Keywords: IDH1; IDH2; astrocytoma; glioma; next generation sequencing.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Function of wildtype IDH1/2 enzymes by intracellular compartment, with induction of oncometabolite d-2-HG by mutant IDH1/2 enzymes demonstrated.
Figure 2
Figure 2
Systematic literature review strategy—PRISMA flowchart of record inclusion [20].
See this image and copyright information in PMC

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