Review Article

Molecular Diagnosis & Therapy

, Volume 16, Issue 6, pp 357-369

First online:

Molecular-Based Classification of Acute Myeloid Leukemia and Its Role in Directing Rational Therapy

Personalized Medicine for Profoundly Promiscuous Proliferations
  • Gerald B. W. WertheimAffiliated withDepartment of Pathology and Laboratory Medicine, Children’s Hospital of PhiladelphiaDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania
  • , Elizabeth HexnerAffiliated withAbramson Cancer Center
  • , Adam BaggAffiliated withDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania Email author 

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Acute myeloid leukemia (AML) is not a single pathologic entity but represents a heterogeneous group of malignancies. This heterogeneity is exemplified by the variable clinical outcomes that are observed in patients with AML, and it is largely the result of diverse mutations within the leukemic cells. These mutations range from relatively large genetic alterations, such as gains, losses, and translocations of chromosomes, to single nucleotide changes. Detection of many of these mutations is required for accurate diagnosis, prognosis, and treatment of patients with AML. As such, many testing modalities have been developed and are currently employed in clinical laboratories to ascertain mutational status at prognostically and therapeutically critical loci. The assays include those that specifically identify large chromosomal alterations, such as conventional metaphase analysis and fluorescence in situ hybridization, and methods that are geared more toward analysis of small mutations, such as PCR with allele-specific oligonucleotide primers. Furthermore, newer tests, including array analysis and next-generation sequencing, which can simultaneously probe numerous molecular aberrancies within tumor cells, are likely to become commonplace in AML diagnostics. Each testing method clearly has advantages and disadvantages, an understanding of which should influence the choice of test in various clinical circumstances. To aid such understanding, this review discusses both genetic mutations in AML and the clinical tests—including their pros and cons—that may be used to probe these abnormalities. Additionally, we highlight the significance of genetic testing by describing cases in which results of genetic testing significantly influence clinical management of patients with AML.