BCR::ABL1-Like B-Cell Acute Lymphoblastic Leukemia with BCR::PDGFRA Fusion: A Case Report and Literature Review

Abstract

<b><i>Introduction:</i></b> 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) (<i>BCR::PDGFRA</i>) fusion gene, classified as a <i>BCR::ABL1-</i>like subtype. To our knowledge, this is the first such report. <b><i>Case Presentation:</i></b> The patient tested negative for <i>BCR::ABL1</i> fusion. t(4;22)(q12;q11.2) was detected by karyotype analysis. <i>BCR::PDGFRA</i> transcripts were detected by RNA sequencing. Dasatinib combined with chemotherapy was ineffective. Furthermore, <i>EZH2</i> 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 <i>BCR::PDGFRA/ABL1</i> dropped to 9.18 × 10⁻⁴. <b><i>Conclusion:</i></b> 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 <i>BCR::PDGFRA</i>.