Molecular Analysis of Gene Rearrangements and Mutations in Acute Leukemias and Myeloid Neoplasms. (11th January 2017)

• Record Type: Journal Article
• Authors: Sholl, Lynette M.; Longtine, Janina; Kuo, Frank C.
• Editors: Haines, Jonathan L.; Korf, Bruce R.; Morton, Cynthia C.; Seidman, Christine E.; Seidman, J.G.; Smith, Douglas R.
• Is Part Of: Current protocols in human genetics. Volume 92(2017)
• Page Start: 10.4.1
• Page End: 10.4.49
• Publication Date: 2017-01-11
• Subjects: leukemia -- myeloid neoplasms -- mutations -- prognosis -- rearrangements; Human genetics -- Laboratory manuals; Genetic Techniques; Human genetics; Laboratory manuals; 599.935028
• DOI: 10.1002/cphg.31
• Languages: English
• ISSNs: 1934-8258

Abstract

Abstract: A subset of acute leukemias and other myeloid neoplasms contains specific genetic alterations, many of which are associated with unique clinical and pathologic features. These alterations include chromosomal rearrangements leading to oncogenic fusion proteins or alteration of gene expression by juxtaposing oncogenes to enhancer elements, as well as mutations leading to aberrant activation of a variety of proteins critical to hematopoietic progenitor cell proliferation and differentiation. Molecular analysis is central to diagnosis and clinical management of leukemias, permitting genetic confirmation of a clinical and histologic impression, providing prognostic and predictive information, and facilitating detection of minimal residual disease. This unit will outline approaches to the molecular diagnosis of the most frequent and clinically relevant genetic alterations in acute leukemias and myeloid neoplasms. © 2017 by John Wiley & Sons, Inc.