Emergence of RUNX1-RUNX1T1 in a case of PML-RARA positive Acute Promyelocytic Leukemia: A rare case of dual translocation identified by RT-PCR

Abstract

We report a 58-year female diagnosed with acute promyelocytic leukemia, initially PML-RARA positive by RT-PCR. Following initiation of all- trans retinoic acid-based therapy, the emergence of RUNX1- RUNX1T1 (t (8;21)) was detected in peripheral blood and bone marrow. Molecular studies via nested and real-time PCR confirmed dual translocation, with a bcr1 variant of PML-RARA and 260 bp AML1- ETO fusion product. This case highlights the importance of comprehensive molecular surveillance during acute promyelocytic leukemia treatment to detect early clonal evolution, which may affect prognosis and therapeutic decisions.