Tumor protein p53 (TP53) is a gene that codes for a tumor suppressor protein. The protein regulates expression
of genes involved in cell cycle arrest,
apoptosis, senescence, DNA repair, and
changes in metabolism (Gene
2014). In cancer, TP53’s normal roles are not fulfilled, leading to cell
survival, DNA damage, and cell proliferation. TP53 is the most frequently mutated gene in
cancer; it is mutated in about half of all cancers (Genetics Home Reference
2014). TP53 is most frequently mutated in ovarian, colon, and esophageal cancers,
although it is significantly mutated in many other cancer types (COSMIC).
Suggested Citation: Strickland, S., A. Kim. 2015. TP53. My Cancer
(Updated December 4).
Last Updated: December 4, 2015
TP53 in Myelodysplastic Syndromes
TP53 mutations occur in 9.0% of MDS (COSMIC). TP53 mutations are most often observed in patients with
advanced disease or whose tumors harbor a complex karyotype, chromosome 17 abnormalities,
chromosome 5 deletions, or chromosome 7 deletions (Cazzola, Della
Porta, and Malcovati 2013). The role of TP53 mutations in MDS is not yet well
understood. These mutations are found spread throughout the gene.
TP53 mutations are a prognostic biomarker
for decreased overall survival and have been associated with a higher likelihood of
transformation to AML (Bejar et al. 2011; Cazzola, Della
Porta, and Malcovati 2013; NCCN
2014). In addition, Bejar et al. (2014)
observed that TP53 mutations predict shorter overall survival following hematopoietic stem
cell transplantation. In MDS with chromosome 5 deletions, TP53 mutations have been
associated with poor response to the drug lenalidomide, a thalidomide analog (Cazzola, Della
Porta, and Malcovati 2013).
Suggested Citation: Strickland, S., A. Kim. 2014. TP53 in Myelodysplastic
Syndromes. My Cancer Genome https://www.padiracinnovation.org/content/disease/myelodysplastic-syndromes/tp53/
(Updated September 23).
Last Updated: September 23, 2014
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