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- W2035441724 abstract "Clinical, cytogenetic, and gene-based studies have been used to inform biology and improve prognostication for patients with acute myeloid leukemia (AML), myelodysplasia (MDS), and myeloroliferative neoplasms (MPN). Most recently, a series of candidate gene and whole genome studies have identified recurrent somatic mutations in AML, MDS, and MPN patients including TET2, ASXL1, DNMT3A, and EZH2, mutations. We and others have shown these mutations are of prognostic relevance, and can be used to improve risk stratification in AML, MDS, and MPN. Of biologic importance, the TET family of proteins have been shown to place a hydroxyl mark on methylated DNA and lead to DNA demethylation. We and others have found that TET2 mutations leads to loss of DNA hydroxymethylation and a hypermethylation phenotype in leukemia patients. In addition, in vitro and in vivo studies show that TET2 loss leads to impaired hematopoietic differentiation, increased stem cell self-renewal, and myeloid transformation in vivo. Most recently studies have revealed a role of mutations in chromatin modifying enzymes in hematopoietic transformation, including mutations in the enhancer of trithorax and polycomb (ETP) gene ASXL1. We have elucidated the effects of ASXL1 mutations on chromatin state, gene expression, and hematopoietic function, and identified a specific role for ASXL1 in regulating H3K27 trimethylation and PRC2 function at specific loci in hematopoietic cells including at the HoxA cluster. We have also shown that hematopoietic specific loss of ASXL1 loss leads to myeloid transformation in vivo. These data demonstrate that novel mutations coopt the epigenetic state of hematopoietic stem/progenitor cells in order to contribute to transformation." @default.
- W2035441724 created "2016-06-24" @default.
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- W2035441724 date "2013-08-01" @default.
- W2035441724 modified "2023-10-16" @default.
- W2035441724 title "Role of mutations in epigenetic regulators in pathogenesis of myeloid malignancies" @default.
- W2035441724 doi "https://doi.org/10.1016/j.exphem.2013.05.028" @default.
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