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Review
. 2017 Oct 1;11(4):328-339.

Acute Myeloid Leukemia-Genetic Alterations and Their Clinical Prognosis

Francisco Alejandro Lagunas-Rangel  1 , Venice Chávez-Valencia  2   3 , Miguel Ángel Gómez-Guijosa  4 , Carlos Cortes-Penagos  5
Affiliations
Review

Acute Myeloid Leukemia-Genetic Alterations and Their Clinical Prognosis

Francisco Alejandro Lagunas-Rangel et al. Int J Hematol Oncol Stem Cell Res. .

Abstract

Acute myeloid leukemia (AML) is a group of hematological diseases, phenotypic and genetically heterogeneous, characterized by abnormal accumulation of blast cells in the bone marrows and peripheral blood. Its incidence rate is approximately 1.5 per 100,000 in infants younger than 1 year of age and 25 per 100,000 persons in octogenarians. Traditionally, cytogenetic markers are used to stratify patients in three risk categories: favorable, intermediate and unfavorable. However, the forecast stratification and the treatment decision for patients with normal karyotype shows difficulties due to the high clinical heterogeneity. The identification of several genetic mutations additional to classical molecular markers has been useful in identifying new entities. Nowadays, many different mutations and epigenetic aberrations have been implicated in the diagnostic, prognostic and treatment of AML. This review is focused on describing the most important molecular markers with implications for clinical practice.

Keywords: AML; Cytogenetic; Molecular marker; Mutations; Risk groups.

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Figures

Figure 1
Figure 1
Model of cooperation between mutations associated with appearance of AML.
Figure 2
Figure 2
Etiology of AML. Many factors contribute to the development of AML, since exogenous and endogenous factors that associate and cause the appearance of the first signs and symptoms are generally diverse and nonspecific.
Figure 3
Figure 3
Scheme of the genetic-molecular landscape of AML. Cytogenetic factors involved t(8;21) (q22;q22) [RUNX1/RUNX1T1], inv(16)(p13q22) [CBFB/MYH11], t(15;17)(q24;q21) [PML/RARA], t(9;11)(p22;q23) [MLLT3/MLL], t(6;9)(p23;q34) [DEK/NUP214], inv(3)(q21q26) [RPN1/EVI1] and t(1;22)(p13;q13) [RBM15/MKL1]. Meanwhile, mutations in FLT3, NPM1 and CEBPA correspond to recurrent genetic abnormalities with prognostic value according to the WHO. The main epigenetic changes involve mutations in DNMT3a, TET2, IDH1 and IDH2 that modify DNA methylation patterns. Yellow circles indicate methyl groups, while the red stars represent mutations.
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