Cohesin Mutations in Myeloid Malignancies. Trends Cancer 2017 Apr;3(4):282-293
Date
06/20/2017Pubmed ID
28626802Pubmed Central ID
PMC5472227DOI
10.1016/j.trecan.2017.02.006Scopus ID
2-s2.0-85016763591 (requires institutional sign-in at Scopus site) 32 CitationsAbstract
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 SAuthors
Michael James Burke MD Professor in the Pediatrics department at Medical College of WisconsinSridhar 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 ProteinsChromosomal Proteins, Non-Histone
Humans
Leukemia, Myeloid, Acute
Mutation
