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<p>B-cell acute lymphoblastic leukemia (B-ALL) harboring the <i>SET-NUP214</i> fusion constitutes an exceedingly rare and aggressive subtype. While this genetic aberration is a well-recognized hallmark of T-cell acute lymphoblastic leukemia (T-ALL), its clinical implications and therapeutic landscape in the B-cell lineage remain largely elusive. Herein, we report the first documented case of relapsed/refractory <i>SET-NUP214</i>-positive B-ALL achieving a successful response to a salvage regimen combining venetoclax with Hyper-CVAD chemotherapy.</p><p>A 25-year-old male presented with profound cytopenias and 95.5% bone marrow blasts. Flow cytometric analysis characterized the malignant population as pro-B-ALL, with immunophenotypic expression of CD34, CD38, HLA-DR, CD7, and CD58, alongside partial CD19 and cCD79a, and myeloid co-expression (CD13/CD33). Molecular profiling identified the <i>SET-NUP214</i> fusion transcript, accompanied by concurrent <i>JAK3</i>,<i> PHF6</i>,<i> and PTPN11</i> mutations. The patient experienced a short-term relapse following induction remission with the VDLP regimen, and subsequent re-induction with the VDEP regimen failed. Subsequently, MRD-negative remission was achieved after adding venetoclax during the mid-course of Hyper-CVAD-A chemotherapy. This deep response facilitated a successful bridge to allogeneic hematopoietic stem cell transplantation (allo-HSCT), with the patient maintaining sustained remission for 24 months post-transplant. Our findings suggest that venetoclax-based combinations may provide a potent reinduction strategy for refractory <i>SET-NUP214</i>-positive ALL, underscoring <i>BCL-2</i> inhibition as a pivotal therapeutic intervention for this high-risk genomic subset.</p>

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Successful treatment of B-cell acute lymphoblastic leukemia with SET-NUP214 rearrangement using venetoclax: A first case report and literature review

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年7月28日

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  • Gang Chen,
  • Chao Min,
  • Jing Xu,
  • Jifu Zheng,
  • Huihui Li,
  • Zhenjiang Li

摘要

B-cell acute lymphoblastic leukemia (B-ALL) harboring the SET-NUP214 fusion constitutes an exceedingly rare and aggressive subtype. While this genetic aberration is a well-recognized hallmark of T-cell acute lymphoblastic leukemia (T-ALL), its clinical implications and therapeutic landscape in the B-cell lineage remain largely elusive. Herein, we report the first documented case of relapsed/refractory SET-NUP214-positive B-ALL achieving a successful response to a salvage regimen combining venetoclax with Hyper-CVAD chemotherapy.

A 25-year-old male presented with profound cytopenias and 95.5% bone marrow blasts. Flow cytometric analysis characterized the malignant population as pro-B-ALL, with immunophenotypic expression of CD34, CD38, HLA-DR, CD7, and CD58, alongside partial CD19 and cCD79a, and myeloid co-expression (CD13/CD33). Molecular profiling identified the SET-NUP214 fusion transcript, accompanied by concurrent JAK3, PHF6, and PTPN11 mutations. The patient experienced a short-term relapse following induction remission with the VDLP regimen, and subsequent re-induction with the VDEP regimen failed. Subsequently, MRD-negative remission was achieved after adding venetoclax during the mid-course of Hyper-CVAD-A chemotherapy. This deep response facilitated a successful bridge to allogeneic hematopoietic stem cell transplantation (allo-HSCT), with the patient maintaining sustained remission for 24 months post-transplant. Our findings suggest that venetoclax-based combinations may provide a potent reinduction strategy for refractory SET-NUP214-positive ALL, underscoring BCL-2 inhibition as a pivotal therapeutic intervention for this high-risk genomic subset.