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The role of mutations in epigenetic regulators in myeloid malignancies

Shih, Alan H., Abdel-Wahab, Omar, Patel, Jay P., Levine, Ross L.·2012·Nature Reviews Cancer
DOI 10.1038/nrc3343
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Abstract

Recent genomic studies have identified novel recurrent somatic mutations in patients with myeloid malignancies, including myeloproliferative neoplasms (MPNs), myelodysplastic syndrome (MDS) and acute myeloid leukaemia (AML). In some cases these mutations occur in genes with known roles in regulating chromatin and/or methylation states in haematopoietic progenitors, and in other cases genetic and functional studies have elucidated a role for specific mutations in altering epigenetic patterning in myeloid malignancies. In this Review we discuss recent genetic and functional data implicating mutations in epigenetic modifiers, including tet methylcytosine dioxygenase 2 (TET2), isocitrate dehydrogenase 1 (IDH1), IDH2, additional sex combs-like 1 (ASXL1), enhancer of zeste homologue 2 (EZH2) and DNA methyltransferase 3A (DNMT3A), in the pathogenesis of MPN, MDS and AML, and discuss how this knowledge is leading to novel clinical, biological and therapeutic insights.

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Metadata

Authors
Shih, A. H., Abdel-Wahab, O., Patel, J. P., & Levine, R. L.
Venue
Nature Reviews Cancer
Publisher
Springer Science and Business Media LLC
Published
2012-08-17
Volume
12
Issue
9
Pages
599-612
ISSN
  • 1474-175X
  • 1474-1768
DOI
10.1038/nrc3343
Cited by
611
References
25
Language
en
Licence
www.springer.com/tdm (tdm)

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