Ph1-positive acute myeloid leukemia de novo or blast crisis of chronic myeloid leukemia? Molecular analysis and clinical course of a case

A case of AML presented with basophilia in peripheral blood and Ph1 chromosome in karyotype analysis is reported. After one year of treatment with intensive chemotherapy and clinical and hematological remission, molecular analysis (RT-PCR) detected minimal residual disease (b2-a2 rearrangement). Thus, the patient relapsed as AML and, after second remission, he developed a hematological picture of chronic CML. Ten months later, he relapsed again as AML. The difficulties of diagnosis between AML Ph1-positive de novo and myeloid blast crisis of CML, as the first manifestation of disease, based on clinical and molecular aspects are discussed.