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EZH2
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Interpretation 2283
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.

Citations
  1. Lund K, et al. EZH2 in normal and malignant hematopoiesis. Leukemia 2014;28(1):44-9
  2. Khan SN, et al. Multiple mechanisms deregulate EZH2 and histone H3 lysine 27 epigenetic changes in myeloid malignancies. Leukemia 2013;27(6):1301-9
  3. Guglielmelli P, et al. The number of prognostically detrimental mutations and prognosis in primary myelofibrosis: an international study of 797 patients. Leukemia 2014;28(9):1804-10
  4. Itzykson R, et al. Somatic mutations and epigenetic abnormalities in myelodysplastic syndromes. Best Pract Res Clin Haematol 2013;26(4):355-64
  5. Wang J, et al. TET2, ASXL1 and EZH2 mutations in Chinese with myelodysplastic syndromes. Leuk Res 2013;37(3):305-11
  6. Ntziachristos P, et al. Genetic inactivation of the polycomb repressive complex 2 in T cell acute lymphoblastic leukemia. Nat Med 2012;18(2):298-301
  7. National Comprehensive Cancer Network. Clinical Practice Guidelines in Oncology. Myelodysplastic Syndromes (Version 1.2019).
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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