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SUZ12
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Interpretation 2279
Tier 2
SUZ12
Variants
SUZ12 any mutation
Primary Sites
Blood
Bone Marrow
Tumor Types
Myeloproliferative Neoplasm
Mast Cell Neoplasm
Acute Myeloid Leukemia
Primary Myelofibrosis
Myelodysplastic Syndrome
Chronic Myelomonocytic Leukemia
Acute Leukemia of Unspecified Cell Type
Anemia, Unspecified
Atypical Chronic Myeloid Leukemia
B Lymphoblastic Leukemia/Lymphoma
Chronic Myeloid Leukemia
Chronic Neutrophilic Leukemia
Cytopenia
Eosinophilia
Essential Thrombocythemia
Histiocytic and Dendritic Cell Neoplasms
Langerhans Cell Histiocytosis
Leukocytosis
Leukopenia
MDS with Ring Sideroblasts
Monocytosis
Myelodysplastic/Myeloproliferative Neoplasm
Myeloid Neoplasm
Other Acute Leukemia
Polycythemia Vera
Polycythemia
T Lymphoblastic Leukemia/Lymphoma
Thrombocytopenia, Unspecified
Thrombocytosis
Interpretation

SUZ12 is one of the core components of the polycomb repressive complex 2 (PRC2), which is a highly conserved histone H3 lysine 27 methyltransferase that regulates the expression of developmental genes. SUZ12 mutations are present infrequently (<2%) in myeloproliferative neoplasms (MPN) and myelodysplastic syndrome/myeloproliferative neoplasm (MDS/MPN). The mutations are missense and tend to be located at the highly conserved VEFS domain, is required for the interaction between SUZ12 and EZH2. These mutations reduced PRC2 histone methyltransferase activity in vitro. Inactivating mutations of the catalytic component of PRC2, EZH2, can also be seen in myeloid neoplasms. Mice with loss of function mutations in PRC2 components display enhanced activity of their hematopoietic stem cell/progenitor population and loss of SUZ12 function in particular enhances hematopoietic stem cell activity.

Citations
  1. Score J, et al. Inactivation of polycomb repressive complex 2 components in myeloproliferative and myelodysplastic/myeloproliferative neoplasms. Blood 2012;119(5):1208-13
  2. Majewski IJ, et al. Polycomb repressive complex 2 (PRC2) restricts hematopoietic stem cell activity. PLoS Biol 2008;6(4):e93
Last updated: 2018-11-12 20:41:10 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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