TP53 mutations
Mutation of one allele of the P53 gene often involves deletion of the other allele and the result is the absence of the protein. Monoallelic deletion of P53 (determined by FISH) is found in many solid tumors, including breast, lung, skin, bladder, colon, cervical, ovarian and glioblastoma, among others, in addition to various non-leukemias and no-Hodgkin lymphomas. The tumor suppressor gene P53 is mutated in 50% of all tumors (mutation together with non-mutated deleted allele).
Recent studies have established a stratification of anaplastic oligodendrogliomas according to P53 gene status and 1p/19q co-deletion:
- Group 3: 1p/19q intact with P53 mutations. Intermediate prognosis / partial response to chemotherapy (33%) and survival time less than six years.
- Group 4: 1p/19q intact without P53 mutations. Poor prognosis / rarely respond to chemotherapy (18%) and survival time generally less than 18 months.
The TP53 gene also plays a key role in various familial syndromes with predisposition to multiple forms of cancer. In the case of Li-Fraumeni syndrome, 70% of cases are due to germline mutations in the TP53 gene.
References
- Ohgaki H, et al. (2011) Brain Tumor Pathol 28(3):177-83.
- Antonelli M, et al. (2010) J Neurooncol 99(2):209-15.
- Figarella-Branger D, et al. (2008) Rev Neurol (Paris) 164(6-7):505-15.
- Uno M, et al. (2006) Int J Biol Markers 21(1):50-7.
