Medical College of Wisconsin
CTSICores SearchResearch InformaticsREDCap

Cohesin Mutations in Myeloid Malignancies. Trends Cancer 2017 Apr;3(4):282-293



Pubmed ID


Pubmed Central ID




Scopus ID

2-s2.0-85016763591   28 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 acute megakaryocytic leukemia associated with Down syndrome (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.

Author List

Fisher JB, McNulty M, Burke MJ, Crispino JD, Rao S


Michael James Burke MD Professor in the Pediatrics department at Medical College of Wisconsin
Sridhar Rao MD, PhD Associate Professor in the Pediatrics department at Medical College of Wisconsin

MESH terms used to index this publication - Major topics in bold

Cell Cycle Proteins
Chromosomal Proteins, Non-Histone
Leukemia, Myeloid, Acute