Atypical BCR‐ABL1 transcript in mixed phenotype acute leukemia with bone marrow necrosis

• Published in: Molecular carcinogenesis Vol. 63; no. 8; pp. 1429 - 1435
• Main Authors: Liu, Jiarui, Jiang, Yujie, Yuan, Dai, Zhang, Zhifen, Liu, Xin, Zhao, Wenbo, Xu, Hongzhi
• Format: Journal Article
• Language: English
• Published: United States Wiley Subscription Services, Inc 01.08.2024
• Subjects: atypical transcripts; BCR protein; BCR‐ABL1; Bone marrow; Bone Marrow - pathology; Chemotherapy; Coexistence; Cytarabine; Fusion protein; Fusion Proteins, bcr-abl - genetics; Genotype & phenotype; Humans; Leukemia; Leukemia, Biphenotypic, Acute - drug therapy; Leukemia, Biphenotypic, Acute - genetics; Leukemia, Biphenotypic, Acute - pathology; Male; Medical prognosis; Methotrexate; Middle Aged; mixed phenotype acute leukemia; Necrosis; Phenotypes; Philadelphia chromosome; Remission; TKI; BCR‐ABL1; TKI; mixed phenotype acute leukemia; atypical transcripts; Philadelphia chromosome
• ISSN: 0899-1987; 1098-2744; 1098-2744
• DOI: 10.1002/mc.23742

Mixed phenotype acute leukemia (MPAL) is a type of acute leukemia in which encompasses mixed features of myeloid, T‐lymphoid, and/or B‐lymphoid differentiation. Philadelphia chromosome‐positive (Ph+) MPAL is a rare subgroup with a poor prognosis and accounts for ＜1% of adult acute leukemia. Until now, there is still no consensus on how to best treat Ph+ MPAL. Here, we report a 62‐year‐old male with Ph+ (atypical e13a2 BCR‐ABL1 fusion protein) MPAL. This patient presented with recurrent and intense bone pain due to bone marrow necrosis (BMN). Besides, he did not achieve a complete remission for the first two chemotherapies, until he received flumatinib combined with hyper‐CVAD (B) (a dose‐intensive regimen include methotrexate and cytarabine). To our knowledge, this is the first report to describe the coexistence of BMN and atypical e13a2 BCR‐ABL1 transcripts in patients with MPAL. This finding will bring new understandings in the diagnosis and treatment of Ph+ MPAL.