Currently, in routine clinical practice, diagnosis of AML is confirmed with blast count ≥20% on bone marrow smear, immunophenotyping and cytogenetical analysis recognizing chromosomal rearrangements (karyotyping and FISH analysis) combined with molecular analysis of mutated genes, such as NPM1, CEBPA, RUNX1, FLT3 (both internal tandem duplication (ITD) and tyrosine kinase domain (TDK)), ASXL1 and TP53 [10]. The gene discussed is NPM1; the disease is acute myeloid leukemia.