The Impact of DNA Methylation in Hematopoietic Malignancies

Maria Guillamot, Luisa Cimmino, Iannis Aifantis

Research output: Contribution to journalReview articlepeer-review

45 Scopus citations


Aberrant DNA methylation is a characteristic feature of cancers including blood malignancies. Mutations in the DNA methylation regulators DNMT3A, TET1/2, and IDH1/2 are recurrent in leukemia and lymphoma. Specific and distinct DNA methylation patterns characterize subtypes of acute myeloid leukemia (AML) and lymphoma. Regulatory regions such as promoter CpG islands, CpG shores, and enhancers show changes in methylation during transformation. However, the reported poor correlation between changes in methylation and gene expression in many mouse models and human studies reflects the complexity in the precise molecular mechanism for why aberrant DNA methylation promotes malignancies. This review summarizes current concepts regarding the mechanisms behind aberrant DNA methylation in hematopoietic malignancy and discusses its importance in cancer prognosis, tumor heterogeneity, and relapse.

Original languageEnglish (US)
Pages (from-to)70-83
Number of pages14
JournalTrends in Cancer
Issue number2
StatePublished - Feb 1 2016
Externally publishedYes


  • and epigenetics
  • DNA methylation
  • leukemia
  • lymphoma

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


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