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Cohesin Mutations in Myeloid Malignancies. Trends Cancer 2017 04;3(4):282-293

Date

06/20/2017

Pubmed ID

28626802

Pubmed Central ID

PMC5472227

DOI

10.1016/j.trecan.2017.02.006

Scopus ID

2-s2.0-85016763591   15 Citations

Abstract

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

Authors

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
Humans
Leukemia, Myeloid, Acute
Mutation
jenkins-FCD Prod-482 91ad8a360b6da540234915ea01ff80e38bfdb40a