A case report of mixed-phenotype acute leukemia with atypical BCR::ABL1 e13a3 fusion gene.

RATIONALE: Mixed-phenotype acute leukemia (MPAL) is a type of acute leukemia which is characterized by immunophenotypic features of myeloid, T-lymphoid, and/or B-lymphoid differentiation. The Philadelphia chromosome-positive (Ph+) MPAL, a rare subtype of MPAL, represents <1% of adult acute leukemia cases and typically has a poor prognosis. Here we report a very unique case of MPAL with Ph + atypical e13a3 breakpoint cluster region (BCR)::ABL1 fusion protein and provide new perspectives on the diagnosis and management of Ph + MPAL.

PATIENT CONCERNS: We present a 64-year-old male who experienced high-grade fever, nasal congestion, and a runny nose 20 days after contracting a cold. A chest computed tomography revealed double pneumonia. The patient was presented with an anemic appearance, scattered bleeding spots, and ecchymoses, with no superficial lymph nodes palpable.

DIAGNOSES: The patient was diagnosed as MPAL with atypical e13a3 BCR::ABL1 transcripts by morphology, flow cytometry, cytogenetic and molecular biology analyses.

INTERVENTIONS: The patient was treated with a combination therapy of VCD (Bortezomib, Cyclophosphamide, Dexamethasone), Venetoclax, and Dasatinib, supplemented with liver protection, immune modulation, and supportive care.

OUTCOMES: He achieved remission after 2 lines of therapy but subsequently experienced a sudden relapse 3 months later.

LESSONS: At present, there is no established consensus on the treatment of Ph + MPAL, and reports on cases with the atypical e13a3 BCR::ABL1 fusion are particularly scarce. This finding will bring new insights and references for the diagnosis and treatment of Ph + MPAL.