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Updated: Aug 11, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
CDKN2 (p16/MTS1) gene deletion or CDK4 amplification occurs in the majority of glioblastomas
E E Schmidt1, K Ichimura, G Reifenberger
1Institute for Oncology and Pathology, Karolinska Hospital, Stockholm, Sweden.
Abstract:
Forty-six glioblastomas, 16 anaplastic astrocytomas, and 8 astrocytomas were studied for the loss of the CDKN2 (p16/MTS1) gene on 9p. The CDKN2 locus was homozygously deleted in 19 of 46 glioblastomas (41%) and 1 allele was lost in an additional 13 cases (28%). The deleted regions were limited centromerically in some cases by the MTS2 locus and telomerically by the 1063.7 locus. CDKN2 was homozygously deleted in 3 of 16 anaplastic astrocytomas (19%) and 2 further cases showed loss of 1 allele. Amplification of the CDK4 gene was present in 7 of 14 (50%) glioblastomas and 3 of 11 (27%) anaplastic astrocytomas with no losses at the CDKN2 locus as well as in 2 of 32 (6%) glioblastomas with CDKN2 losses. Thus one or more of these two genes were shown to be aberrant in 85% of glioblastomas and 50% of anaplastic astrocytomas. None of the 8 astrocytomas showed abnormalities of these genes.
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