{
  "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.\n\nA 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.\n\nSupplementary Information: The online version contains supplementary material available at https://doi.org/10.1007/s00277-026-07190-y.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Hematology, The Second Affiliated Hospital of Nanchang University, No.1 Minde Road, Donghu District, Nanchang, 330006 Jiangxi China"
  ],
  "article_type": "case report",
  "arxiv": null,
  "author_total": 6,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Gang Chen"
    },
    {
      "affs": [
        0
      ],
      "name": "Chao Min"
    },
    {
      "affs": [
        0
      ],
      "name": "Jing Xu"
    },
    {
      "affs": [
        0
      ],
      "name": "Jifu Zheng"
    },
    {
      "affs": [
        0
      ],
      "name": "Huihui Li"
    },
    {
      "affs": [
        0
      ],
      "name": "Zhenjiang Li"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/bq7heh4j3e383.bib",
  "cited_by": 0,
  "doi": "10.1007/s00277-026-07190-y",
  "fulltext_url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13696570/",
  "id": "bq7heh4j3e383",
  "issns": [
    "0939-5555",
    "1432-0584"
  ],
  "landing_url": "https://doi.org/10.1007/s00277-026-07190-y",
  "language": "en",
  "licence": "CC-BY-4.0",
  "licence_label": "CC BY 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "heading",
      "Case Report"
    ],
    [
      "openalex",
      "2739|Acute Lymphoblastic Leukemia research"
    ]
  ],
  "openalex": "W7171594986",
  "pdf_url": "https://europepmc.org/articles/PMC13696570?pdf=render",
  "pmcid": "PMC13696570",
  "pmid": "42928399",
  "published": "2026-07-28",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/bq7heh4j3e383.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:17:54Z",
      "native_id": "PMC13696570",
      "source": "pmc",
      "url": "https://doi.org/10.1007/s00277-026-07190-y"
    },
    {
      "first_seen": "2026-10-30T12:21:20Z",
      "native_id": "MED:42928399",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42928399"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2739|Acute Lymphoblastic Leukemia research",
      "subfield": "epidemiology-public-health"
    }
  ],
  "title": "Successful treatment of B-cell acute lymphoblastic leukemia with SET-NUP214 rearrangement using venetoclax: A first case report and literature review",
  "title_text": "Successful treatment of B-cell acute lymphoblastic leukemia with SET-NUP214 rearrangement using venetoclax: A first case report and literature review",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:33:53Z",
  "url": "https://research.draconitic.com/paper/bq7heh4j3e383",
  "venue": "Annals of Hematology",
  "versions": []
}