Molecular Analysis of Gene Rearrangements and Mutations in Acute Leukemias and Myeloid Neoplasms.

Molecular Analysis of Gene Rearrangements and Mutations in Acute Leukemias and Myeloid Neoplasms. Curr Protoc Hum Genet. 2017 Jan 11;92:10.4.1-10.4.49 Authors: Sholl LM, Longtine J, Kuo FC 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. PMID: 28075487 [PubMed - in process]
Source: Current Protocols in Human Genetics - Category: Genetics & Stem Cells Tags: Curr Protoc Hum Genet Source Type: research