Enhancer of zeste 2 polycomb repressive complex 2 subunit (EZH2) is a gene that encodes a histone methyltransferase protein. EZH2 is a member of the
polycomb-group family. Members of this family suppress transcription
of genes and are involved in embryonic
development and cellular differentiation (Gene 2014; Genetics Home Reference
2014). EZH2 mutations have been observed in myelodysplastic syndromes, lymphoma,
colorectal cancer, and endometrial cancer. In MDS, these mutations often involve deletions
or translocations which are believed to be associated with loss of function. Paradoxically,
mutations in lymphomas and epithelial neoplasms are thought to involve gain of
Suggested Citation: Strickland, S., A. Kim. 2015. EZH2. My Cancer
(Updated December 4).
Last Updated: December 4, 2015
EZH2 in Myelodysplastic Syndromes
EZH2 mutations occur in 5.8% of MDS (COSMIC). ASXL1 and EZH2 mutations—both genes that code for
chromatin-modifying proteins—are most often observed in refractory cytopenia with
multilineage dysplasia (RCMD) and refractory anemia with excess blasts (RAEB), two subtypes
of high risk MDS (Cazzola,
Della Porta, and Malcovati 2013). EZH2 is a component of the polycomb repressive
complex 2 (PRC2). PRC2 normally represses expression of several leukemogenic genes.
EZH2 mutations are a prognostic biomarker,
associated with shorter overall survival (Bejar et al.
2011; NCCN 2014).
Suggested Citation: Strickland, S., A. Kim. 2015. EZH2 in Myelodysplastic
Syndromes. My Cancer Genome https://www.padiracinnovation.org/content/disease/myelodysplastic-syndromes/ezh2/
(Updated October 16).
Last Updated: October 16, 2015
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