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BCR::ABL1-Like B-Cell Acute Lymphoblastic Leukemia with BCR::PDGFRA Fusion: A Case Report and Literature Review
Jiamin Hua1,2, Han Yan3, Xiangyu Qian4
1Shanghai Institute of Hematology, State Key Laboratory of Medical Genomics, National Research Center for Translational Medicine at Shanghai, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China, 58680937@qq.com.
Introduction:
We report a case of B-cell acute lymphoblastic leukemia (B-ALL) involving the breakpoint cluster region (BCR) and platelet-derived growth factor receptor alpha (PDGFRA) (BCR::PDGFRA) fusion gene, classified as a BCR::ABL1-like subtype. To our knowledge, this is the first such report.
Case Presentation:
The patient tested negative for BCR::ABL1 fusion. t(4;22)(q12;q11.2) was detected by karyotype analysis. BCR::PDGFRA transcripts were detected by RNA sequencing. Dasatinib combined with chemotherapy was ineffective. Furthermore, EZH2 mutation was detected. Imatinib, which led to complete remission, was administered; flow cytometry revealed that the minimal residual disease had dropped to 0.008%, and RT-qPCR revealed that BCR::PDGFRA/ABL1 dropped to 9.18 × 10-4.
Conclusion:
It is noteworthy that imatinib was more effective than dasatinib in our case, although the duration of remission was short. Our findings suggest that other therapies like allogeneic hematopoietic stem cell transplantation may need to be combined to improve long-term survival in ALL cases with BCR::PDGFRA.
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