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EZH2
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EZH2 any missense
GeneEZH2
Variantmissense
Transcript ID (GRCh37/hg19)ENST00000320356
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
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Interpretations

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Tier 2
EZH2
Variants
EZH2 any mutation
EZH2 any missense
Primary Sites
Blood
Bone Marrow
Tumor Types
Acute Myeloid Leukemia
Acute Leukemia of Unspecified Cell Type
Anemia, Unspecified
Atypical Chronic Myeloid Leukemia
B Lymphoblastic Leukemia/Lymphoma
Chronic Myelomonocytic Leukemia
Chronic Neutrophilic Leukemia
Cytopenia
Leukocytosis
Leukopenia
MDS with Ring Sideroblasts
Monocytosis
Myelodysplastic Syndrome
Myelodysplastic/Myeloproliferative Neoplasm
Myeloid Neoplasm
Myeloproliferative Neoplasm
Other Acute Leukemia
Primary Myelofibrosis
Thrombocytopenia, Unspecified
Thrombocytosis
T Lymphoblastic Leukemia/Lymphoma
Interpretation

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 occurring 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, 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 adverse prognosis in MDS and MDS/MPN. Therapeutic targeting of EZH2 is currently under study for some types of lymphoma and solid tumors.

Last updated: 2018-11-12 20:41:22 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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