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ETV6-related thrombocytopenia: dominant negative effect of mutations as common pathogenic mechanism.

作者信息

Faleschini Michela, Ammeti Daniele, Papa Nicole, Alfano Caterina, Bottega Roberta, Fontana Giorgia, Capaci Valeria, Zanchetta Melania E, Pozzani Federico, Montanari Francesca, Petroni Valeria, Giordano Paola, Noris Patrizia, Giona Fiorina, Savoia Anna

机构信息

Istitute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste.

Department of Medical Sciences, University of Trieste, Trieste.

出版信息

Haematologica. 2022 Sep 1;107(9):2249-2254. doi: 10.3324/haematol.2022.280729.

DOI:10.3324/haematol.2022.280729
PMID:35586967
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9425326/
Abstract
摘要

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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
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Inherited Thrombocytopenia Related Genes: GPS2 Mediates the Interplay Between ANKRD26 and ETV6.

本文引用的文献

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Molecular basis of ETV6-mediated predisposition to childhood acute lymphoblastic leukemia.ETV6 介导的儿童急性淋巴细胞白血病易感性的分子基础。
Blood. 2021 Jan 21;137(3):364-373. doi: 10.1182/blood.2020006164.
2
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.
3
Inherited thrombocytopenia and platelet disorders with germline predisposition to myeloid neoplasia.
遗传性血小板减少症相关基因：GPS2介导ANKRD26与ETV6之间的相互作用。
Cells. 2024 Dec 30;14(1):23. doi: 10.3390/cells14010023.
4
Genetic predisposition to myelodysplastic syndrome: Genetic counseling and transplant implications.骨髓增生异常综合征的遗传易感性：遗传咨询及移植意义
Semin Hematol. 2024 Dec;61(6):370-378. doi: 10.1053/j.seminhematol.2024.09.003. Epub 2024 Sep 22.
5
Inherited Predispositions to Myeloid Neoplasms: Pathogenesis and Clinical Implications.髓系肿瘤的遗传易感性：发病机制与临床意义
Annu Rev Pathol. 2025 Jan;20(1):87-114. doi: 10.1146/annurev-pathmechdis-111523-023420. Epub 2025 Jan 2.
6
Molecular pathophysiology of germline mutations in acute myeloid leukemia.胚系突变在急性髓系白血病中的分子病理生理学。
Int J Hematol. 2024 Oct;120(4):417-426. doi: 10.1007/s12185-024-03824-x. Epub 2024 Aug 16.
7
Hereditary platelet disorders associated with germ line variants in RUNX1, ETV6, and ANKRD26.与 RUNX1、ETV6 和 ANKRD26 种系变异相关的遗传性血小板疾病。
Blood. 2023 Mar 30;141(13):1533-1543. doi: 10.1182/blood.2022017735.
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"CHildren with Inherited Platelet disorders Surveillance" (CHIPS) retrospective and prospective observational cohort study by Italian Association of Pediatric Hematology and Oncology (AIEOP).意大利儿科血液学和肿瘤学协会（AIEOP）开展的“遗传性血小板疾病患儿监测”（CHIPS）回顾性和前瞻性观察性队列研究。
Front Pediatr. 2022 Nov 22;10:967417. doi: 10.3389/fped.2022.967417. eCollection 2022.
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Haematologica. 2016 Nov;101(11):1333-1342. doi: 10.3324/haematol.2016.147496. Epub 2016 Jun 30.
6
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Lancet Oncol. 2015 Dec;16(16):1659-66. doi: 10.1016/S1470-2045(15)00369-1. Epub 2015 Oct 28.
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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。
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8
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.
9
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.
10
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