Related Experiment Video
Updated: Mar 24, 2026
Evaluation of Biomarkers in Glioma by Immunohistochemistry on Paraffin-Embedded 3D Glioma Neurosphere Cultures
Published on: January 9, 2019
HOT mutation screening in human glioblastomas
Daniel Krell1, Paul Mulholland2, Justin Stebbing3
1Molecular & Population Genetics Laboratory, Wellcome Trust Center for Human Genetics, University of Oxford, Oxford, UK ; Department of Medical Oncology, University College London Hospitals, London, UK.
Aims:
Somatic mutations in IDH1 and IDH2 are described in glioblastomas (GBMs). Mutant IDH1 and IDH2 reduce α-KG to D-2HG which accumulates, and is proposed to promote tumorigenesis. HOT catalyzes the conversion of γ-hydroxybutyrate to succinic semialdehyde in a reaction that produces D-2HG. Since increased HOT enzyme activity could lead to an accumulation of D-2HG, coupled with the fact that only a minority of GBMs carry IDH1/2 mutations and 2HG accumulation has recently been described in IDH wild-type tumors, we analyzed a set of GBM samples for mutations in the HOT gene.
Materials & Methods:
We screened 42 human GBM samples for mutations in HOT.
Results:
No mutations in HOT were identified in the 42 GBM samples screened.
Conclusion:
Mutations in the coding regions of HOT do not occur at an appreciable frequency in GBM.
