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

作者：Yan Zhou, Mei Liu, Yunlu Zhao, Rui Zhang, Qi Guo, Zhanlong Wang, Yanbo Nie, Jingci Yang, Min Shi · 发表于：Medicine · 年份：2025 · DOI：10.1097/md.0000000000046329 · 研究领域：Acute Myeloid Leukemia Research、Chronic Myeloid Leukemia Treatments、Acute Lymphoblastic Leukemia research

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 ...