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ETV6 in hematopoiesis and leukemia predisposition.ETV6在造血作用及白血病易感性中的作用
Semin Hematol. 2017 Apr;54(2):98-104. doi: 10.1053/j.seminhematol.2017.04.005. Epub 2017 Apr 7.
2
Germline ETV6 mutations and predisposition to hematological malignancies.胚系ETV6突变与血液系统恶性肿瘤易感性
Int J Hematol. 2017 Aug;106(2):189-195. doi: 10.1007/s12185-017-2259-4. Epub 2017 May 29.
3
ETV6-related thrombocytopenia and leukemia predisposition.ETV6 相关血小板减少症和白血病易感性。
Blood. 2019 Aug 22;134(8):663-667. doi: 10.1182/blood.2019852418. Epub 2019 Jun 27.
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Novel phenotypes observed in patients with -linked leukaemia/familial thrombocytopenia syndrome and a biallelic risk allele as leukaemogenic cofactor.伴有双等位基因 风险等位基因的 -连锁白血病/家族性血小板减少症综合征患者的新型表型，作为白血病发生的协同因子。
J Med Genet. 2020 Jun;57(6):427-433. doi: 10.1136/jmedgenet-2019-106339. Epub 2019 Nov 8.
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ETV6 germline mutations cause HDAC3/NCOR2 mislocalization and upregulation of interferon response genes.胚系 ETV6 突变导致 HDAC3/NCOR2 定位错误和干扰素反应基因上调。
JCI Insight. 2020 Sep 17;5(18):140332. doi: 10.1172/jci.insight.140332.
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Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia.生殖系ETV6突变赋予急性淋巴细胞白血病和血小板减少症易感性。
PLoS Genet. 2015 Jun 23;11(6):e1005262. doi: 10.1371/journal.pgen.1005262. eCollection 2015 Jun.
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Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia.ETV6基因的种系突变与血小板减少、红细胞大细胞症以及淋巴细胞白血病易感性相关。
Nat Genet. 2015 May;47(5):535-538. doi: 10.1038/ng.3253. Epub 2015 Mar 25.
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Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.家族性血小板减少症和血液系统恶性肿瘤中的胚系ETV6突变
Nat Genet. 2015 Feb;47(2):180-5. doi: 10.1038/ng.3177. Epub 2015 Jan 12.
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ETV6: a versatile player in leukemogenesis.ETV6：白血病发生过程中的多面手。
Semin Cancer Biol. 2005 Jun;15(3):162-74. doi: 10.1016/j.semcancer.2005.01.008.
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Mechanism of ETV6-RUNX1 Leukemia.ETV6-RUNX1白血病的发病机制。
Adv Exp Med Biol. 2017;962:201-216. doi: 10.1007/978-981-10-3233-2_13.
引用本文的文献
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The clinical utility and prognostic value of next-generation sequencing for measurable residual disease assessment in acute myeloid leukemia.下一代测序在急性髓系白血病可测量残留病评估中的临床应用及预后价值
Ther Adv Hematol. 2025 Jun 26;16:20406207251349261. doi: 10.1177/20406207251349261. eCollection 2025.
2
Impact of ETV6 mutations on clinical outcomes in acute myeloid leukemia: a real-world retrospective cohort study.ETV6突变对急性髓系白血病临床结局的影响：一项真实世界回顾性队列研究。
Ann Hematol. 2025 Jun 21. doi: 10.1007/s00277-025-06451-6.
3
Imatinib-Induced Clinical Response in ETV6::ACSL6 Myeloid Neoplasm with Eosinophilic Pneumonitis: A Case Report.伊马替尼治疗ETV6::ACSL6髓系肿瘤伴嗜酸性肺炎的临床反应：一例报告
Am J Case Rep. 2025 Apr 9;26:e946517. doi: 10.12659/AJCR.946517.
4
A novel truncated fusion gene ::AC010198.2 in post-MPN acute myeloid leukemia caused by del(12)(p13p11).由del(12)(p13p11)引起的骨髓增殖性肿瘤后急性髓系白血病中的一种新型截短融合基因::AC010198.2
Front Oncol. 2025 Feb 11;15:1495182. doi: 10.3389/fonc.2025.1495182. eCollection 2025.
5
Synergistic and antagonistic activities of IRF8 and FOS enhancer pairs during an immune-cell fate switch.免疫细胞命运转换过程中IRF8和FOS增强子对的协同和拮抗活性。
EMBO J. 2025 Apr;44(7):2025-2055. doi: 10.1038/s44318-025-00380-w. Epub 2025 Feb 19.
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Genetic Predisposition to Hematologic Malignancies.血液系统恶性肿瘤的遗传易感性
Cold Spring Harb Perspect Med. 2025 Feb 10. doi: 10.1101/cshperspect.a041585.
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ETS Transcription Factors in Immune Cells and Immune-Related Diseases.转录因子在免疫细胞和免疫相关性疾病中的作用。
Int J Mol Sci. 2024 Sep 17;25(18):10004. doi: 10.3390/ijms251810004.
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Multiomic single cell sequencing identifies stemlike nature of mixed phenotype acute leukemia.多组学单细胞测序鉴定混合表型急性白血病的干细胞样特性。
Nat Commun. 2024 Sep 18;15(1):8191. doi: 10.1038/s41467-024-52317-2.
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The Diverse Roles of ETV6 Alterations in B-Lymphoblastic Leukemia and Other Hematopoietic Cancers.ETV6 改变在 B 淋巴细胞白血病和其他造血系统癌症中的多种作用。
Adv Exp Med Biol. 2024;1459:291-320. doi: 10.1007/978-3-031-62731-6_13.
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Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in a Child with Myelodysplastic Neoplasm with Complex Karyotype and Variant.一名患有复杂核型和变异型骨髓增生异常综合征儿童的异基因造血干细胞移植结果
Mediterr J Hematol Infect Dis. 2024 May 1;16(1):e2024040. doi: 10.4084/MJHID.2024.040. eCollection 2024.
本文引用的文献
1
Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors.ETV6基因的种系变异是血小板生成减少、血小板功能障碍和循环CD34+祖细胞水平升高的基础。
Haematologica. 2017 Feb;102(2):282-294. doi: 10.3324/haematol.2016.147694. Epub 2016 Sep 23.
2
Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia.与急性淋巴细胞白血病易感性相关的ETV6相关血小板减少症的临床和致病特征
Haematologica. 2016 Nov;101(11):1333-1342. doi: 10.3324/haematol.2016.147496. Epub 2016 Jun 30.
3
Common genetic variation in ETV6 is associated with colorectal cancer susceptibility.常见的 ETV6 基因变异与结直肠癌易感性相关。
Nat Commun. 2016 May 5;7:11478. doi: 10.1038/ncomms11478.
4
Germline genetic variation in ETV6 and risk of childhood acute lymphoblastic leukaemia: a systematic genetic study.ETV6基因种系遗传变异与儿童急性淋巴细胞白血病风险：一项系统遗传学研究
Lancet Oncol. 2015 Dec;16(16):1659-66. doi: 10.1016/S1470-2045(15)00369-1. Epub 2015 Oct 28.
5
Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia.生殖系ETV6突变赋予急性淋巴细胞白血病和血小板减少症易感性。
PLoS Genet. 2015 Jun 23;11(6):e1005262. doi: 10.1371/journal.pgen.1005262. eCollection 2015 Jun.
6
Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia.ETV6基因的种系突变与血小板减少、红细胞大细胞症以及淋巴细胞白血病易感性相关。
Nat Genet. 2015 May;47(5):535-538. doi: 10.1038/ng.3253. Epub 2015 Mar 25.
7
Platelet Rho GTPases-a focus on novel players, roles and relationships.血小板Rho GTP酶——聚焦新成员、作用及关系
Biochem J. 2015 Mar 15;466(3):431-42. doi: 10.1042/BJ20141404.
8
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.家族性血小板减少症和血液系统恶性肿瘤中的胚系ETV6突变
Nat Genet. 2015 Feb;47(2):180-5. doi: 10.1038/ng.3177. Epub 2015 Jan 12.
9
ETV6 (TEL1) regulates embryonic hematopoiesis in zebrafish.ETV6（TEL1）调控斑马鱼的胚胎造血过程。
Haematologica. 2015 Jan;100(1):23-31. doi: 10.3324/haematol.2014.104091. Epub 2014 Oct 3.
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RAG-mediated recombination is the predominant driver of oncogenic rearrangement in ETV6-RUNX1 acute lymphoblastic leukemia.RAG 介导的重组是 ETV6-RUNX1 急性淋巴细胞白血病中致癌重排的主要驱动因素。
Nat Genet. 2014 Feb;46(2):116-25. doi: 10.1038/ng.2874. Epub 2014 Jan 12.
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