Genetic features
- Genes located on chromosome 9
- Code for tumour suppressor genes p14, p15, and p16
Function
- A stabilizer of the tumor suppressor protein p53 as it can interact with, and sequester, the E3 ubiquitin-protein ligase MDM2, a protein responsible for the degradation of p53.
- Cell cycle G1 control.
Clinical associations
- Supratentorial ependymoma, ZFTA fusion-positive
- Homozygous deletion of CDKN2A/B has been identified as an independent poor prognostic indicator
- Brain mets
- CDKN2A alterations and melanoma primary malignancy are associated with increased postoperative seizure risk following resection of BMs.
- Pleomorphic xanthoastrocytoma (PXA)
- Part of desirable criteria
- Homozygous deletion of CDKN2A and/or CDKN2B
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