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1
ETV6 mutation in a cohort of 970 patients with hematologic malignancies.970例血液系统恶性肿瘤患者队列中的ETV6突变
Haematologica. 2014 Oct;99(10):e176-8. doi: 10.3324/haematol.2014.104406. Epub 2014 Jul 4.
2
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.
3
ETV6 fusion genes in hematological malignancies: a review.血液系统恶性肿瘤中的 ETV6 融合基因：综述。
Leuk Res. 2012 Aug;36(8):945-61. doi: 10.1016/j.leukres.2012.04.010. Epub 2012 May 12.
4
Identification of the nuclear localization motif in the ETV6 (TEL) protein.ETV6（TEL）蛋白中核定位基序的鉴定。
Cancer Genet Cytogenet. 2006 Jun;167(2):117-21. doi: 10.1016/j.cancergencyto.2006.01.006.
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
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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Mutation of the salt bridge-forming residues in the ETV6-SAM domain interface blocks ETV6-NTRK3-induced cellular transformation.盐桥形成残基的突变会阻断 ETV6-SAM 结构域界面上的 ETV6-NTRK3 诱导的细胞转化。
J Biol Chem. 2013 Sep 27;288(39):27940-50. doi: 10.1074/jbc.M113.475301. Epub 2013 Jun 24.
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fusions from insertions of exons 3-5 in pediatric hematologic malignancies.小儿血液系统恶性肿瘤中外显子3至5插入导致的融合
Haematologica. 2023 Dec 1;108(12):3471-3476. doi: 10.3324/haematol.2022.282498.
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Genomic aberrations involving 12p/ETV6 are highly prevalent in blastic plasmacytoid dendritic cell neoplasms and might represent early clonal events.涉及12p/ETV6的基因组畸变在母细胞样浆细胞样树突状细胞肿瘤中高度普遍，可能代表早期克隆事件。
Leuk Res. 2018 Oct;73:86-94. doi: 10.1016/j.leukres.2018.09.006. Epub 2018 Sep 17.
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ETV6 and signaling gene mutations are associated with secondary transformation of myelodysplastic syndromes to chronic myelomonocytic leukemia.ETV6与信号基因变异与骨髓增生异常综合征向慢性粒单核细胞白血病的二次转化相关。
Blood. 2014 Jun 5;123(23):3675-7. doi: 10.1182/blood-2014-03-562637.

引用本文的文献

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Rare germline ETV6 variant associated with thrombocytopenia and acute leukemia.与血小板减少症和急性白血病相关的罕见胚系ETV6变异体。
Ann Hematol. 2025 Aug 27. doi: 10.1007/s00277-025-06536-2.
2
Progress in the Genetics of Myelodysplastic Syndromes with a Latin American Perspective.从拉丁美洲视角看骨髓增生异常综合征的遗传学进展
Genes (Basel). 2025 Jun 2;16(6):687. doi: 10.3390/genes16060687.
3
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.
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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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Germline Variants and Characteristic Features of Hereditary Hematological Malignancy Syndrome.胚系变异与遗传性血液恶性肿瘤综合征的特征表现。
Int J Mol Sci. 2024 Jan 4;25(1):652. doi: 10.3390/ijms25010652.
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Genomic landscape of TP53-mutated myeloid malignancies.TP53 突变型髓系恶性肿瘤的基因组景观。
Blood Adv. 2023 Aug 22;7(16):4586-4598. doi: 10.1182/bloodadvances.2023010156.
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Acute myeloid leukemia: novel mutations and their clinical implications.急性髓系白血病：新突变及其临床意义。
Am J Blood Res. 2023 Feb 15;13(1):12-27. eCollection 2023.
8
Genomic landscape of -mutated myeloid malignancies.携带特定突变的髓系恶性肿瘤的基因组图谱。 （注：你原文中“-mutated”这里应该有具体的某个基因或其他特定突变信息缺失，我按一般情况补充了“特定”来使译文完整通顺些）
medRxiv. 2023 Jan 11:2023.01.10.23284322. doi: 10.1101/2023.01.10.23284322.
9
Genetics and Epigenetics in Neoplasms with Plasmacytoid Dendritic Cells.浆细胞样树突状细胞肿瘤中的遗传学与表观遗传学
Cancers (Basel). 2022 Aug 26;14(17):4132. doi: 10.3390/cancers14174132.
10
High ETV6 Levels Support Aggressive B Lymphoma Cell Survival and Predict Poor Outcome in Diffuse Large B-Cell Lymphoma Patients.ETV6高水平支持侵袭性B淋巴瘤细胞存活并预示弥漫性大B细胞淋巴瘤患者预后不良。
Cancers (Basel). 2022 Jan 11;14(2):338. doi: 10.3390/cancers14020338.

本文引用的文献

1
ETV6 deletion is a common additional abnormality in patients with myelodysplastic syndromes or acute myeloid leukemia and monosomy 7.ETV6缺失是骨髓增生异常综合征或急性髓系白血病伴7号染色体单体患者常见的附加异常。
Haematologica. 2012 Dec;97(12):1933-6. doi: 10.3324/haematol.2012.069716. Epub 2012 Aug 8.
2
ETV6 fusion genes in hematological malignancies: a review.血液系统恶性肿瘤中的 ETV6 融合基因：综述。
Leuk Res. 2012 Aug;36(8):945-61. doi: 10.1016/j.leukres.2012.04.010. Epub 2012 May 12.
3
The genetic basis of early T-cell precursor acute lymphoblastic leukaemia.早期 T 细胞前体急性淋巴细胞白血病的遗传基础。
Nature. 2012 Jan 11;481(7380):157-63. doi: 10.1038/nature10725.
4
ETV6 mutations in early immature human T cell leukemias.早期未成熟人类 T 细胞白血病中的 ETV6 突变。
J Exp Med. 2011 Dec 19;208(13):2571-9. doi: 10.1084/jem.20112239. Epub 2011 Dec 12.
5
Clinical effect of point mutations in myelodysplastic syndromes.骨髓增生异常综合征点突变的临床疗效。
N Engl J Med. 2011 Jun 30;364(26):2496-506. doi: 10.1056/NEJMoa1013343.
6
Deletion of 11q23 is a highly specific nonrandom secondary genetic abnormality of ETV6/RUNX1-rearranged childhood acute lymphoblastic leukemia.11q23缺失是ETV6/RUNX1重排的儿童急性淋巴细胞白血病一种高度特异性的非随机继发性基因异常。
Leukemia. 2007 Mar;21(3):584-6. doi: 10.1038/sj.leu.2404507. Epub 2007 Jan 11.
7
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.
8
Somatic heterozygous mutations in ETV6 (TEL) and frequent absence of ETV6 protein in acute myeloid leukemia.急性髓系白血病中ETV6（TEL）的体细胞杂合突变及ETV6蛋白的频繁缺失
Oncogene. 2005 Jun 9;24(25):4129-37. doi: 10.1038/sj.onc.1208588.
9
Tel/Etv6 is an essential and selective regulator of adult hematopoietic stem cell survival.Tel/Etv6是成体造血干细胞存活的关键且具有选择性的调节因子。
Genes Dev. 2004 Oct 1;18(19):2336-41. doi: 10.1101/gad.1239604. Epub 2004 Sep 15.
10
Incidence and relevance of secondary chromosome abnormalities in childhood TEL/AML1+ acute lymphoblastic leukemia: an interphase FISH analysis.儿童TEL/AML1+急性淋巴细胞白血病中继发性染色体异常的发生率及相关性：一项间期荧光原位杂交分析
Leukemia. 2004 Oct;18(10):1611-6. doi: 10.1038/sj.leu.2403471.

ETV6 mutation in a cohort of 970 patients with hematologic malignancies.

作者信息

Wang Qinrong, Dong Shasha, Yao Hong, Wen Lijun, Qiu Huiying, Qin Llili, Ma Liang, Chen Suning

机构信息

Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, Collaborative Innovation Center of Hematology, Soochow University, the First Affiliated Hospital of Soochow University, Suzhou, P.R. China.

Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, Collaborative Innovation Center of Hematology, Soochow University, the First Affiliated Hospital of Soochow University, Suzhou, P.R. China

出版信息

Haematologica. 2014 Oct;99(10):e176-8. doi: 10.3324/haematol.2014.104406. Epub 2014 Jul 4.

DOI:10.3324/haematol.2014.104406
PMID:24997145
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4181263/
Abstract
摘要