• What is EZH2?
  • EZH2 in Myelodysplastic Syndromes
  • Clinical Trials


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 function.​

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Contributors: Stephen A. Strickland, M.D., MSCI, Annette S. Kim, M.D., Ph.D.

Suggested Citation: Strickland, S., A. Kim. 2015. EZH2. My Cancer Genome https://www.padiracinnovation.org/content/disease/myelodysplastic-syndromes/ezh2/?tab=0 (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).​

Contributors: Stephen A. Strickland, M.D., MSCI, Annette S. Kim, M.D., Ph.D.

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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