Introduction BCR::ABL1 fusion is associated with chronic myelogenous leukemia (CML) and precursor B acute lymphoblastic leukemia (ALL). Though rare, there has been continued reporting of AML with BCR::ABL1 fusion. We report two such cases. Clinical Presentations The first is a 38-year-old male, who has been human immunodeficiency virus (HIV) positive since 2004, with leukocytosis and numerous circulating blasts that showed evidence of a BCR-ABL1 fusion rearrangement in the 91% of the cells analyzed via FISH. He responded well to tyrosine kinase inhibitor (TKI) combined chemotherapy. He was free of disease at two years of treatment but showed minimal residual disease at molecular level six years after initial presentation. The second is a 69-year-old female with anemia, thrombocytopenia, and 25% circulating blasts. Her flow cytometric analysis revealed a CD34+ and CD117+ immature myeloid blast population. Her initial cytogenetic analysis showed t(9;22) translocation with loss of chromosomes 12 and 17, derivative of chromosome 1, pericentric inv(17), and two small marker chromosomes. Reverse transcription polymerase chain reaction (RT-PCR) revealed p190 and p210 BCR-ABL1 fusion transcripts. She received multiple combinations of chemotherapy, consisting of Dasatinib, Cytarabine, and Idarubicin. The patient showed persistent disease at 18 months of therapy with detectable BCR-ABL1 transcripts in peripheral blood. The complex genetic profile of her cancer is likely the reason for her poor response, compared to the first patient. She was lost to follow-up. Conclusion With ever improving therapy available and few cases in the literature, correct and timely diagnosis with proper management of AML with BCR::ABL1 is warranted.
Dabrowski et al. (Thu,) studied this question.