Acute myeloid leukemia (AML) is a disease characterizedby high molecular heterogeneity. About one-third ofAML patients harbor well-defined chromosomal translocations and are included as a distinct entity named “AML with recurrent genetic abnormalities ” in the 2008 World Health Organization (WHO) classification of myeloid neo-plasms.1 During the past decade, there have been major efforts to better define the genetic lesions underlying the large group of AML with normal cytogenetics (CN-AML) that accounts for 40-50 % of all AML cases. Mutations associated with CN-AML include those affecting NPM1, FLT3, MLL, CEBPA, TET2, ASXL1, IDH1, IDH2, DNMT3A, RUNX1 and other genes.2 Because of their distinct biological and clinical features, “AML with mutated NPM1 ” and “AML with mutated CEBPA ” are already recognized as provisional entities in the 2008 WHO classification.1,3,4 The increasing use of next-generation sequencing technolo-
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Tiacci et al. (2011) studied this question.
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