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- Title
Diffuse glioma - Rare homozygous IDH point mutation, is it an oncogenetic mechanism?
- Authors
Singh, Angad; Gurav, Mamta; Dhanavade, Sandeep; Shetty, Omshree; Epari, Sridhar
- Abstract
Isocitrate dehydrogenase ( IDH1/IDH2) mutations in gliomas of WHO grade II/III and secondary glioblastoma are almost always heterozygous missense mutations. Here, we report an extremely rare case of homozygous IDH1R132H mutation in a recurrent WHO grade III anaplastic astrocytoma. The authors here also review the relevant literature for the possible metabolic impact of homozygous IDH1/2 mutations in the gliomagenesis.
- Subjects
GLIOMAS; ISOCITRATE dehydrogenase; POINT mutation (Biology); WORLD Health Organization; FLUORESCENCE in situ hybridization; PATIENTS
- Publication
Neuropathology, 2017, Vol 37, Issue 6, p582
- ISSN
0919-6544
- Publication type
Article
- DOI
10.1111/neup.12401