Screening for IDH Mutations in Glioblastoma

Sample size: 47 publication Evidence: moderate

Author Information

Author(s): Krell Daniel, Assoku Mawuelikem, Galloway Malcolm, Mulholland Paul, Tomlinson Ian, Bardella Chiara

Primary Institution: Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford

If loss of IDH function is critical for tumourigenesis, we might expect some tumours to acquire somatic IDH3 mutations.

Mutations in IDH3, D2HGDH, and L2HGDH do not occur at an appreciable frequency in glioblastoma.

Heterozygous mutations of IDH1 were found in 12% of glioblastoma samples.
No mutations were found in IDH2, D2HGDH, or L2HGDH.
The study suggests that both loss of IDH function and 2HG accumulation might be required for tumorigenesis.

The study looked at brain tumors to see if certain gene mutations were present, but found that only one type of mutation was common.

The study involved screening 47 glioblastoma samples for mutations in IDH1, IDH2, IDH3, D2HGDH, and L2HGDH.

The study only analyzed a limited number of glioblastoma samples and did not explore other potential mutations.

All samples were confirmed to be WHO grade IV glioblastoma.

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