Rare acute myeloid leukemia harboring BCR/ABL1 (P210), AML1-MDS1/EVI1, and AML1/EAP: case report and literature review

Acute myeloid leukemia (AML) with concurrent multiple fusion genes is extremely rare and characterized by high malignancy, poor chemotherapy response, and dismal prognosis. Here we report a 32-year-old male patient diagnosed with de novo high-risk AML harboring BCOR mutations, AML1-MDS1/EVI1, AML1-EAP, and BCR-ABL1 p210 fusion genes. The patient received induction chemotherapy with IA+VEN (idarubicin, cytarabine and venetoclax) regimen and achieved complete remission (CR); however, disease progression occurred during the first consolidation therapy. Subsequently, salvage chemotherapy combined with dasatinib was administered, and the patient reattained complete remission with incomplete hematologic recovery (CRi). The patient then underwent allogeneic hematopoietic stem cell transplantation (allo-HSCT) from his HLA-mismatched father. Post-transplant maintenance therapy consisting of chidamide, decitabine, and dasatinib was administered regularly. At the latest follow-up 3 months after transplantation, the patient remained in continuous molecular remission, with negative minimal residual disease (MRD) and significantly reduced BCR::ABL1 and EVI1 transcript levels. This case indicates that individualized sequential therapy including targeted agents, combination chemotherapy, allo-HSCT with chidamide-containing conditioning, and post-transplant epigenetic maintenance may provide effective disease control and favorable long-term outcomes for ultra-high-risk AML with multiple adverse molecular abnormalities.