Acute myeloid leukemia associated with rapid acquisition of FLT3-internal tandem duplications, ecotropic virus integration site-1 and Wilms′ tumor 1 genes overexpression 4 months after an intermediate-risk myelodysplastic syndrome diagnosis

The myelodysplastic syndromes (MDS) are heterogeneous diseases with the different time period of progression to acute myeloid leukemia (AML). We report a case of a 38-year-old male with intermediate risk MDS, presence of normal karyotype and no expression of FLT3-internal tandem duplications (ITD), ecotropic virus integration site-1 (EVI-1) and Wilms′ tumor 1 (WT1). Four months later, overt AML was diagnosed. The presence of normal karyotype was once again observed, but the molecular analysis revealed FLT3-ITD presence and over-expression of WT1 and EVI-1 genes. Complete remission was achieved after high-dose induction chemotherapy, and high-dose cytarabine consolidation was carried out. Three months later a relapse with a fatal outcome occurred. The case is the first report of a quick MDS progression to AML within 4 months due to rapid acquisition of several molecular abnormalities. This case suggests that frequent molecular screening for relevant genetic abnormalities might be useful for early detection of disease progression, particularly in normal karyotype cases