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Acute Myeloid Leukemia: An Update

  • Deepshi Thakral
  • Ritu GuptaEmail author
Chapter

Abstract

Acute myeloid leukemia (AML) is a rapidly progressing aggressive malignancy of the hematopoietic myeloid progenitor cells most commonly found in older adults. It is characterized by an impaired differentiation and aberrant clonal proliferation of immature myeloid precursors in the bone marrow that result in the accumulation of nonfunctional myeloblasts, impaired hematopoiesis, bone marrow failure, and peripheral blood cytopenias, thus increasing the risk of severe infections, anemia, bleeding, and other complications in patients [1, 2]. Classically, morphology, immunophenotyping, and cytogenetic approaches have been used for the diagnosis and classification of AML (French-American-British (FAB) classification) [3, 4]. With the advent of whole genome sequencing, the complexity of AML emerged wherein heterogeneous and competent clones evolve and coexist at any time during the disease course [5–8]. Recurrent somatic mutations have been identified in AML, and the number of leukemia-associated genes is increasingly comprehensive [9, 10]. Henceforth, the WHO incorporated molecular alterations, in addition to the conventional methods for AML classification to establish clonality, identify molecular translocations and risk stratification of patients (2008–2009) and further revised in 2016 [11–14]. Thereafter, a paradigm shift from a morphologic classification of AML to one guided by causative genomic changes has been witnessed [15]. For the past four decades, the standard of care for AML has been 3 + 7 combination chemotherapy, with 3 days of anthracycline and 7 days of cytarabine [16, 17]. Although many patients with AML respond to induction chemotherapy, refractory disease is common, and relapse represents the major cause of treatment failure despite intensive therapy. Targeted therapies are emerging as treatment modalities and several clinical trials are ongoing [18, 19].

Keywords

Acute myeloid leukemia AML Cytogenetic Molecular genetics RUNX1-RUNX1T1 CBFB-MYH11 PML-RARA NPM1 CEBPA FLT3 Next-generation sequencing Genomic classification of AML Targeted therapies 

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© Springer Nature Singapore Pte Ltd. 2019

Authors and Affiliations

  1. 1.Laboratory Oncology Unit, Dr. B.R.A. IRCHAll India Institute of Medical SciencesNew DelhiIndia

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