Brain tumour genetics

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Brain tumour genetics. This is seen in >50% of anaplastic oligodendroglioma (grade III). Fully referenced neurology checklist.

1p19q co-deletion

  • This is seen in >50% of anaplastic oligodendroglioma (grade III)
  • It is present in ~90% of grade II oligodendroglioma
  • It is seen in ~20% of oligoastrocytomas
  • It is sensitive to Procarbazine, Lomustine, Vincristine, and Temozolamide
  • It is also sensitive to radiotherapy

Isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) gene mutations

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BRAF (V600E) point mutations: affected tumours

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MGMT

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Polymerase epsilon (POLE) gene mutations

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Other brain tumour genes

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References

  1. Jansen M, Yip S, Louis DN. Molecular pathology in adult gliomas: diagnostic, prognostic, and predictive markers. Lancet Neurol 2010; 9:717-726.
  2. Hayhurst C. Contemporary management of low-grade glioma: a paradigm shift in neuro-oncology. Pract Neurol 2017; 17:183-190.
  3. Brandner S, Jaunmuktane Z. Neurological update: gliomas and other primary brain tumours in adults. J Neurol 2018; 265:717-727. 
  4. Thon N, Thorsteinsdottir J, Eigenbrod S, et al. Outcome in unresectable glioblastoma: MGMT promoter methylation makes the difference. J Neurol 2017; 264:350-358. 
  5. Erson-Omay EZ, Çağlayan AO, Schultz N, et al. Somatic POLE mutations cause an ultramutated giant cell high-grade glioma subtype with better prognosis. Neuro Oncol 2015; 17:1356-1364. 
  6. And 6 more. Subscribe to see the full list

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