Successful treatment of B-cell acute lymphoblastic leukemia with SET-NUP214 rearrangement using venetoclax: A first case report and literature review
- 1Department of Hematology, The Second Affiliated Hospital of Nanchang University, No.1 Minde Road, Donghu District, Nanchang, 330006 Jiangxi China
Abstract
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.
Supplementary Information: The online version contains supplementary material available at https://doi.org/10.1007/s00277-026-07190-y.
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BibTeX
@article{chen2026successful,
title = {{Successful treatment of B-cell acute lymphoblastic leukemia with SET-NUP214 rearrangement using venetoclax: A first case report and literature review}},
author = {Gang Chen and Chao Min and Jing Xu and Jifu Zheng and Huihui Li and Zhenjiang Li},
journal = {Annals of Hematology},
year = {2026},
month = jul,
doi = {10.1007/s00277-026-07190-y},
url = {https://doi.org/10.1007/s00277-026-07190-y},
note = {CC BY 4.0},
}
RIS
TY - JOUR
TI - Successful treatment of B-cell acute lymphoblastic leukemia with SET-NUP214 rearrangement using venetoclax: A first case report and literature review
AU - Gang Chen
AU - Chao Min
AU - Jing Xu
AU - Jifu Zheng
AU - Huihui Li
AU - Zhenjiang Li
PY - 2026
DA - 2026/07/28
JO - Annals of Hematology
DO - 10.1007/s00277-026-07190-y
UR - https://doi.org/10.1007/s00277-026-07190-y
AB - 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. Supplementary Information: The online version contains supplementary material available at https://doi.org/10.1007/s00277-026-07190-y.
SN - 0939-5555
SN - 1432-0584
ER -