Edit ID | Edit Comment | Time | |
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402358 | updating ezh2 interp | 11/12/2018 3:41 PM |
EZH2 encodes the histone methyltransferase subunit of the polycomb repressive complex 2 (PRC2) that leads to H3K27me3 and promotes transcriptional repression. Interestingly, possible gain of function mutations in EZH2 have been reported in 7-22% of cases of follicular lymphoma and diffuse large B cell lymphoma while EZH2 loss of function mutations (occasionally occuring as homozygous mutations) throughout the gene have been reported in less than 10% of patients with acute myeloid leukemia, myelodysplasia, chronic myelomonocytic leukemia, atypical chronic myelogenous leukemia or primary myelofibrosis . In addition, EZH2 loss of function mutations may be more frequent (15%) among cases of T cell acute lymphoblastic leukemia. EZH2 mutations have been associated with poor prognosis in several diseases. Therapeutic targeting of EZH2 in some settings is currently under study .
EZH2 encodes the histone methyltransferase subunit of the polycomb repressive complex 2 (PRC2) that leads to H3K27me3 and promotes transcriptional repression. EZH2 loss of function mutations (nonsense, frameshift mutations, occasionally occuring as homozygous mutations) may occur throughout the gene and have been reported in less than 10% of patients with acute myeloid leukemia, myelodysplasia, atypical chronic myelogenous leukemia or primary myelofibrosis and up to 12% of patients with chronic myelomonocytic leukemia. EZH2 loss of function mutations may be more frequent (15%) among cases of T cell acute lymphoblastic leukemia. EZH2 mutations have been independently associated with poor prognosis in MDS and CMML. Therapeutic targeting of EZH2 in some settings is currently under study .