Characteristics Analysis of Patients with SET-NUP214 Fusion Gene-Positive Acute Leukemia
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Keywords

SET-NUP214
Fusion gene
Acute leukemia
Patient characteristic analysis

DOI

10.26689/jcnr.v10i7.15888

Published : 2026-08-13

Abstract

Patients with SET-NUP214 fusion gene-positive acute leukemia are mainly young and middle-aged males, most of whom are diagnosed with T-cell acute lymphoblastic leukemia (T-ALL). Immunophenotyping is often accompanied by the expression of myeloid markers such as CD13 and CD33. Karyotype analysis presents normal karyotypes in some patients and abnormalities, including 9q34 deletion, in others. This type of leukemia is frequently accompanied by mutations of PHF6, NOTCH1, JAK3, and other genes. In terms of treatment, conventional chemotherapy has a low remission rate and tends to induce drug resistance, while allogeneic hematopoietic stem cell transplantation can bring benefits to some patients. The expression level of SET-NUP214 can be used as an indicator for follow-up of minimal residual disease and prognostic monitoring, but further expansion of sample size is required for verification to achieve better detection results.

References

Wang J, Zhan Q, Lu X, et al., 2022, The Characteristics and Prognostic Significance of the SET-CAN/NUP214 Fusion Gene in Hematological Malignancies: A Systematic Review. Medicine, 101(30): e29294.

Chen S, Song W, Qin Y, et al., 2021, Analysis of the Clinical Characteristics of 24 Cases of Hematological Malignancies with SET-NUP214 Fusion Gene. Zhonghua Xue Ye Xue Za Zhi, 42(6): 459–465.

Yang Q, Qian H, Jin Z, et al., 2020, SET-CAN Fusion Gene as Poor Prognosis Predictor in Adult T-Cell Acute Lymphoblastic Leukemia. Leukemia & Lymphoma, 61(1): 217–220.

Zhu H, Zhao X, Qin Y, et al., 2016, B-Cell Acute Lymphoblastic Leukemia Associated with SET-NUP214 Rearrangement: A Case Report and Review of the Literature. Oncology Letters, 11(4): 2644–2650.

Chen Y, Wang Q, Cen J, et al., 2023, Blast Phase of Chronic Myeloid Leukemia with Concurrent BCR::ABL1 and SET::NUP214: A Report of Two Cases. Molecular Carcinogenesis, 62(2): 117–121.

Zhang H, Zhang L, Yan L, et al., 2020, SET-CAN Fusion Gene in Acute Leukemia and Myeloid Neoplasms: Report of Three Cases and a Literature Review. OncoTargets and Therapy, 13: 7665–7681.

Gorello P, La Starza R, Di Giacomo D, et al., 2010, SQSTM1-NUP214: A New Gene Fusion in Adult T-Cell Acute Lymphoblastic Leukemia. Haematologica, 95(12): 2161–2163.

Kau T, Way J, Silver P, 2004, Nuclear Transport and Cancer: From Mechanism to Intervention. Nature Reviews Cancer, 4(2): 106–117.

Strambio-De-Castillia C, Niepel M, Rout M, 2010, The Nuclear Pore Complex: Bridging Nuclear Transport and Gene Regulation. Nature Reviews Molecular Cell Biology, 11(7): 490–501.

Kim J, Lee S, Song J, et al., 2010, Molecular Characterization of Alternative SET-NUP214 Fusion Transcripts in a Case of Acute Undifferentiated Leukemia. Cancer Genetics and Cytogenetics, 201(2): 73–80.