Journal of Shanghai Jiao Tong University (Medical Science) >

2023 , Vol. 43 >Issue 5: 631 - 640

DOI: https://doi.org/10.3969/j.issn.1674-8115.2023.05.015

Review

Research progress in the pathogenesis and prognosis of ZNF384 fusion subtype acute leukemia

  • Ying LI ,
  • Yangxia TAN ,
  • Hongxin YIN ,
  • Yanling JIANG ,
  • Li CHEN ,
  • Guoyu MENG
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  • 1.Department of Basic Medicine, School of Medicine, Kunming University of Science and Technology, Kunming 650500, China
    2.Shanghai Institute of Hematology, State Key Laboratory of Medical Genomics, National Research Center for Translational Medicine(Shanghai), RuiJin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China
MENG Guoyu, E-mail: guoyumeng@shsmu.edu.cn.

Received date: 2022-12-19

  Accepted date: 2023-02-24

  Online published: 2023-07-11

Supported by

National Natural Science Foundation of China(81970132)

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Abstract

Gene fusions caused by chromosomal translocations have become the main pathogenic factors that initiate leukemogenesis. Zinc finger protein 384 (ZNF384) fusion, as an atypical fusion gene in acute leukemia (AL), has widely been identified in different age groups. ZNF384 rearranged 18 genes, with E1A binding protein p300 (EP300), transcription factor 3, (TCF3), and TATA-box binding protein-associated factor 15 (TAF15) being the most common fusion partners. These fusion proteins maintain the complete structure of ZNF384, but the fusion partners are missing in varying degrees, indicating that the mechanisms behind different subtypes of carcinogenesis have similarities. The mechanism of ZNF384-rearranged AL is also being actively investigated. It is mainly believed that the fusion protein regulates the transcription and expression of downstream proteins through chromatin remodeling, and plays a potential role in the differentiation of hematopoietic stem cells, the proliferation and apoptosis of cancer cells and genome repair. Patients with ZNF384 fusions express both lymphoid and myeloid-specific antigens, which have lineage-transforming properties during disease progression. The diversity of immunophenotypes leads to ambiguity in treatment options and diverse outcomes in prognosis studies, and affects the clinical outcome of patients together with fusion subtype and age of onset. Through the statistical analysis of published cases and large-scale cohort studies in the past 10 years, the incidence of ZNF384 fusion in AL and the frequency of each fusion subtype in the context of existing research were further confirmed. The impact of different treatment methods on the prognosis of patients was analyzed, and the identified mechanisms were summarized in order to provide reference for subsequent diagnosis, treatment and research of this unique AL subtype.

Key words： ZNF384 fusion; acute leukemia (AL); immunophenotype; mechanism; diagnosis; prognosis

Cite this article

Ying LI , Yangxia TAN , Hongxin YIN , Yanling JIANG , Li CHEN , Guoyu MENG . Research progress in the pathogenesis and prognosis of ZNF384 fusion subtype acute leukemia[J]. Journal of Shanghai Jiao Tong University (Medical Science), 2023 , 43(5) : 631 -640 . DOI: 10.3969/j.issn.1674-8115.2023.05.015

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