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BRIEF RESEARCH REPORT article

Front. Oncol.
Sec. Hematologic Malignancies
Volume 15 - 2025 | doi: 10.3389/fonc.2025.1495182

A novel truncated fusion gene ETV6::AC010198.2 in post-MPN acute myeloid leukemia caused by del(12)(p13p11)

Provisionally accepted
Jiao Lu Jiao Lu 1Zheng Wang Zheng Wang 1*Guanqun Yang Guanqun Yang 1Wang Man Wang Man 1Lijun Wang Lijun Wang 1Lu Chen Lu Chen 2Haoyue Chen Haoyue Chen 2Xin Jiang Xin Jiang 2Chunhua Liu Chunhua Liu 2Tong Lin Tong Lin 2Qiaoyan Han Qiaoyan Han 2Zhao Zeng Zhao Zeng 1Jinlan Pan Jinlan Pan 1Jiannong Cen Jiannong Cen 1Suning Chen Suning Chen 1Miao Sun Miao Sun 2
  • 1 Soochow University, Suzhou, China
  • 2 Jingjiang People’s Hospital, Taizhou, Jiangsu Province, China

The final, formatted version of the article will be published soon.

    The ETV6 gene, located at chromosome 12p13, belongs to the ETS family of transcription factors, which share a conserved 80 amino acid DNA-binding domain, the ETS domain (1). It encodes an essential transcriptional repressor that is abundantly expressed in hematopoietic stem and progenitor cells (HSPCs). It is critical for the maintenance of HSPCs and the formation of platelets (2, 3), and has been shown to be closely associated with inherited thrombocytopenia and leukemia predisposition (3, 4). ETV6 variants include insertion/deletion mutations and structural variants (deletions, rearrangements) that may lead to truncation and loss of function of ETV6, ultimately contributing to thrombocytopenia and leukemia (4). It has been reported that ETV6 has over 30 partner genes (Supplementary Table 1), such as PDGFRB (1), RUNX1 (5), ACSL6 (6) and non-protein coding RNA like LINC02260 (7) and so on, and is one of the most common translocation genes in acute lymphoblastic leukemia (ALL), as well as other hematological disorders, such as acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS) (1). Functional investigations of ETV6 variants have shown that they are associated with disrupted expression of genes involved in platelet production and platelet cytoskeleton dynamics, including genes CDC42 and RHOA218, but the mechanisms driving leukemia remain unclear (4). Recent studies have shown that ETV6 is required to repress inflammatory gene expression in hematopoietic stem/progenitor cells (HSPCs), and this mechanism may be critical for maintaining HSPCs function (8). Here, we report a long-chain non-coding RNA

    Keywords: AC010198.2, novel, MPN, AML, ETV6

    Received: 12 Sep 2024; Accepted: 16 Jan 2025.

    Copyright: © 2025 Lu, Wang, Yang, Man, Wang, Chen, Chen, Jiang, Liu, Lin, Han, Zeng, Pan, Cen, Chen and Sun. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Zheng Wang, Soochow University, Suzhou, China

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