Epigenetic aberrations in myeloid malignancies (Review)

Takahashi,Shinichiro

doi:10.3892/ijmm.2013.1417

Epigenetic aberrations in myeloid malignancies (Review)

Authors:
- Shinichiro Takahashi
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Affiliations: Division of Hematology, Kitasato University School of Allied Health Sciences; Division of Molecular Hematology, Kitasato University Graduate School of Medical Sciences, Sagamihara, Kanagawa 252-0373, Japan
Published online on: June 12, 2013 https://doi.org/10.3892/ijmm.2013.1417
Pages: 532-538

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Abstract

The development of novel technologies, such as massively parallel DNA sequencing, has led to the identification of several novel recurrent gene mutations, such as DNA methyltransferase (Dnmt)3a, ten-eleven-translocation oncogene family member 2 (TET2), isocitrate dehydrogenase (IDH)1/2, additional sex comb-like 1 (ASXL1), enhancer of zeste homolog 2 (EZH2) and ubiquitously transcribed tetratricopeptide repeat X chromosome (UTX) mutations in acute myeloid leukemia (AML) and other myeloid malignancies. These findings strongly suggest a link between recurrent genetic alterations and aberrant epigenetic regulations, resulting from an abnormal DNA methylation and histone modification status. This review focuses on the current findings of aberrant epigenetic signatures by these newly described genetic alterations. Moreover, epigenetic aberrations resulting from transcription factor aberrations, such as mixed lineage leukemia (MLL) rearrangement, ecotropic viral integration site 1 (Evi1) overexpression, chromosomal translocations and the downregulation of PU.1 are also described.

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