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J. Clin. Med. 2015, 4(3), 460-478; doi:10.3390/jcm4030460

Molecular Genetic Markers in Acute Myeloid Leukemia

Department of Laboratory Medicine and Pathology, Divisions of Hematopathology and Molecular Genetic Pathology, University of Minnesota, MMC Box 609 Mayo, 420 Delaware St. SE. Minneapolis, MN 55455, USA
Academic Editors: Celalettin Ustun and Lucy A. Godley
Received: 5 January 2015 / Revised: 15 January 2015 / Accepted: 3 February 2015 / Published: 12 March 2015
(This article belongs to the Special Issue AML in the Molecular Age: From Biology to Clinical Management)
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Abstract

Genetics play an increasingly important role in the risk stratification and management of acute myeloid leukemia (AML) patients. Traditionally, AML classification and risk stratification relied on cytogenetic studies; however, molecular detection of gene mutations is playing an increasingly important role in classification, risk stratification, and management of AML. Molecular testing does not take the place of cytogenetic testing results, but plays a complementary role to help refine prognosis, especially within specific AML subgroups. With the exception of acute promyelocytic leukemia, AML therapy is not targeted but the intensity of therapy is driven by the prognostic subgroup. Many prognostic scoring systems classify patients into favorable, poor, or intermediate prognostic subgroups based on clinical and genetic features. Current standard of care combines cytogenetic results with targeted testing for mutations in FLT3, NPM1, CEBPA, and KIT to determine the prognostic subgroup. Other gene mutations have also been demonstrated to predict prognosis and may play a role in future risk stratification, although some of these have not been confirmed in multiple studies or established as standard of care. This paper will review the contribution of cytogenetic results to prognosis in AML and then will focus on molecular mutations that have a prognostic or possible therapeutic impact. View Full-Text
Keywords: acute myeloid leukemia (AML); gene mutation; FLT3-ITD; NPM1; CEBPA acute myeloid leukemia (AML); gene mutation; FLT3-ITD; NPM1; CEBPA
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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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Yohe, S. Molecular Genetic Markers in Acute Myeloid Leukemia. J. Clin. Med. 2015, 4, 460-478.

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