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

oleh: Alexander Yuile, Laveniya Satgunaseelan, Joe Wei, Marina Kastelan, Michael F. Back, Maggie Lee, Heng Wei, Michael E. Buckland, Adrian Lee, Helen R. Wheeler

Format: Article
Diterbitkan: MDPI AG 2022-10-01

Deskripsi

Both <i>IDH1</i> (isocitrate dehydrogenase 1) and <i>IDH2</i> (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 <i>IDH1</i> and <i>IDH2</i> 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 <i>IDH1</i> and <i>IDH2</i> 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 <i>IDH1</i> and <i>IDH2</i> mutations on survival was also investigated.