• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

Clonal hematopoiesis in patients with ANKRD26 or ETV6 germline mutations.

作者信息

Drazer Michael W, Homan Claire C, Yu Kai, Cavalcante de Andrade Silva Marcela, McNeely Kelsey E, Pozsgai Matthew J, Acevedo-Mendez Maria G, Segal Jeremy P, Wang Peng, Feng Jinghua, King-Smith Sarah L, Kim Erika, Korotev Sophia, Lawrence David M, Schreiber Andreas W, Hahn Christopher N, Scott Hamish S, Sood Raman, Velloso Elvira D R P, Brown Anna L, Liu Paul P, Godley Lucy A

机构信息

Section of Hematology/Oncology, Department of Medicine, University of Chicago, Chicago, IL.

Department of Human Genetics, University of Chicago, Chicago, IL.

出版信息

Blood Adv. 2022 Aug 9;6(15):4357-4359. doi: 10.1182/bloodadvances.2022007211.

DOI:10.1182/bloodadvances.2022007211
PMID:35537115
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9636309/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d75/9636309/abac26581dec/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d75/9636309/abac26581dec/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d75/9636309/abac26581dec/gr1.jpg

相似文献

1
Clonal hematopoiesis in patients with ANKRD26 or ETV6 germline mutations.ANKRD26或ETV6种系突变患者中的克隆性造血
Blood Adv. 2022 Aug 9;6(15):4357-4359. doi: 10.1182/bloodadvances.2022007211.
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 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.
4
Detection of a new heterozygous germline ETV6 mutation in a case with hyperdiploid acute lymphoblastic leukemia.检测到一例高倍体急性淋巴细胞白血病中存在新的杂合性胚系 ETV6 突变。
Eur J Haematol. 2018 Jan;100(1):104-107. doi: 10.1111/ejh.12981. Epub 2017 Nov 9.
5
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.
6
Germline ETV6 mutation promotes inflammation and disrupts lymphoid development of early hematopoietic progenitors.胚系 ETV6 突变促进炎症并破坏早期造血祖细胞的淋巴发育。
Exp Hematol. 2022 Aug-Sep;112-113:24-34. doi: 10.1016/j.exphem.2022.06.002. Epub 2022 Jul 6.
7
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.
8
Germline deletion of in familial acute lymphoblastic leukemia.家族性急性淋巴细胞白血病中 的胚系缺失。
Blood Adv. 2019 Apr 9;3(7):1039-1046. doi: 10.1182/bloodadvances.2018030635.
9
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.
10
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.

引用本文的文献

1
Chromosomal Deletion Involving ANKRD26 Leads to Expression of a Fusion Protein Responsible for ANKRD26-Related Thrombocytopenia.涉及ANKRD26的染色体缺失导致一种融合蛋白的表达，该融合蛋白与ANKRD26相关血小板减少症有关。
Int J Mol Sci. 2025 Jul 29;26(15):7330. doi: 10.3390/ijms26157330.
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
Genetic predisposition to myelodysplastic syndrome: Genetic counseling and transplant implications.

本文引用的文献

1
Integrating germline variant assessment into routine clinical practice for myelodysplastic syndrome and acute myeloid leukaemia: current strategies and challenges.将胚系变异评估纳入骨髓增生异常综合征和急性髓系白血病的常规临床实践：当前策略与挑战
Br J Haematol. 2022 Mar;196(6):1293-1310. doi: 10.1111/bjh.17855. Epub 2021 Oct 18.
2
RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML.RUNX1 突变家族表现出表型异质性以及一种种系易感性急性髓系白血病特有的体细胞突变谱。
Blood Adv. 2020 Mar 24;4(6):1131-1144. doi: 10.1182/bloodadvances.2019000901.
3
Spectrum of abnormalities and clonal transformation in germline RUNX1 familial platelet disorder and a genomic comparative analysis with somatic RUNX1 mutations in MDS/MPN overlap neoplasms.
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.
4
Prospective genetic germline evaluation in a consecutive group of adult patients aged <60 years with myelodysplastic syndromes.对一组年龄小于60岁的成年骨髓增生异常综合征患者进行前瞻性生殖系基因评估。
Hemasphere. 2024 Jul 15;8(7):e112. doi: 10.1002/hem3.112. eCollection 2024 Jul.
5
Insights into the Molecular Mechanisms of Genetic Predisposition to Hematopoietic Malignancies: The Importance of Gene-Environment Interactions.遗传易感性与血液系统恶性肿瘤的分子机制研究进展：基因-环境相互作用的重要性。
Cancer Discov. 2024 Mar 1;14(3):396-405. doi: 10.1158/2159-8290.CD-23-1091.
6
Special Issue "Advances in Molecular Pathogenesis and Targeted Therapies for Myeloid Neoplasms".特刊征稿：“髓系肿瘤分子发病机制与靶向治疗的进展”
Int J Mol Sci. 2024 Feb 8;25(4):2056. doi: 10.3390/ijms25042056.
7
Germline and somatic drivers in inherited hematologic malignancies.遗传性血液系统恶性肿瘤中的种系和体细胞驱动因素。
Front Oncol. 2023 Oct 13;13:1205855. doi: 10.3389/fonc.2023.1205855. eCollection 2023.
8
Challenges associated with the identification of germline variants on myeloid malignancy genomic profiling-a Singaporean experience.髓系恶性肿瘤基因组分析中种系变异鉴定相关挑战——新加坡的经验
Front Oncol. 2023 Oct 4;13:1182639. doi: 10.3389/fonc.2023.1182639. eCollection 2023.
9
Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41.胚系 RUNX1、GATA2 和 DDX41 变异导致的遗传性血液系统恶性肿瘤的体细胞突变图谱。
Blood Adv. 2023 Oct 24;7(20):6092-6107. doi: 10.1182/bloodadvances.2023010045.
10
Transcription factor genetics and biology in predisposition to bone marrow failure and hematological malignancy.骨髓衰竭和血液系统恶性肿瘤易感性中的转录因子遗传学与生物学
Front Oncol. 2023 Jun 12;13:1183318. doi: 10.3389/fonc.2023.1183318. eCollection 2023.
种系 RUNX1 家族性血小板疾病中的异常谱和克隆转化以及与 MDS/MPN 重叠肿瘤中体细胞 RUNX1 突变的基因组比较分析。
Leukemia. 2020 Sep;34(9):2519-2524. doi: 10.1038/s41375-020-0752-x. Epub 2020 Feb 14.
4
COSMIC: the Catalogue Of Somatic Mutations In Cancer.COSMIC：癌症体细胞突变目录。
Nucleic Acids Res. 2019 Jan 8;47(D1):D941-D947. doi: 10.1093/nar/gky1015.
5
Genetic predisposition to leukemia and other hematologic malignancies.白血病及其他血液系统恶性肿瘤的遗传易感性。
Semin Oncol. 2016 Oct;43(5):598-608. doi: 10.1053/j.seminoncol.2016.10.003. Epub 2016 Oct 25.
6
Clinical Validation of a Next-Generation Sequencing Genomic Oncology Panel via Cross-Platform Benchmarking against Established Amplicon Sequencing Assays.通过与既定的扩增子测序检测进行跨平台基准测试对新一代测序基因组肿瘤学检测板进行临床验证。
J Mol Diagn. 2017 Jan;19(1):43-56. doi: 10.1016/j.jmoldx.2016.07.012. Epub 2016 Nov 9.
7
Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia.家族性骨髓增生异常综合征/急性髓系白血病中生殖系和体细胞变异的基因组分析。
Blood. 2015 Nov 26;126(22):2484-90. doi: 10.1182/blood-2015-04-641100. Epub 2015 Oct 22.
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
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
10
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.