Cohesin Mutations in Myeloid Malignancies

Joseph B. Fisher, Maureen McNulty, Michael J. Burke, John D. Crispino, Sridhar Rao*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

29 Scopus citations


Acute myeloid leukemia (AML) is a hematologic malignancy with a poor prognosis. Recent genome-wide sequencing studies have identified frequent mutations in genes encoding members of the cohesin complex. Mutations in cohesin contribute to myeloid malignancies by conferring enhanced self-renewal of hematopoietic stem and progenitor cells but the mechanisms behind this phenotype have not been fully elucidated. Of note, cohesin mutations are highly prevalent in Down syndrome-associated acute megakaryocytic leukemia (DS-AMKL), where they occur in over half of patients. Evidence suggests that cohesin mutations alter gene expression through changes in chromatin accessibility and/or aberrant targeting of epigenetic complexes. In this review we discuss the pathogenic mechanisms by which cohesin mutations contribute to myeloid malignancies.

Original languageEnglish (US)
Pages (from-to)282-293
Number of pages12
JournalTrends in Cancer
Issue number4
StatePublished - Apr 2017

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


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