Acquisition of a BCR-ABL1 transcript in a patient with disease progression from MDS with fibrosis to AML with myelodysplasia-related changes

Abstract

The 2008 WHO classification tentatively introduced myelodysplastic syndrome with fibrosis (MDS-F) based on previous literature of the existence of such cases. Most MDS-F cases have increased blasts, lower hemoglobin and platelet counts, an aggressive clinical course, and more frequently include cytogenetic aberrations. We report the case of a 66-year-old male patient diagnosed with refractory anemia with excess blasts-2 with fibrosis (MDS RAEB-2-F) with a normal karyotype and negative findings for both BCR-ABL1 transcript and JAK2 V617F mutations. He refused therapy upon his diagnosis and, after 5 months, his disease progressed to leukemia. The patient was diagnosed with acute myeloid leukemia with myelodysplasia-related changes (AML-MRC), based on a bone marrow exam revealing increased blasts (32.8%). Cytogenetic study revealed a complex karyotype, and molecular studies identified a minor BCRABL1 fusion transcript. The patient's general condition deteriorated despite the initiation of induction chemotherapy, and he died approximately 2 weeks after the diagnosis of AML-MRC. This patient's poor clinical outcome may have been exacerbated by the acquisition of the BCR-ABL1 fusion transcript overlapping with the aggressive nature of MDS-F.