• 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

相似文献

1
Kinetics of del(7q) driven leukemogenesis in a patient with JAK2 V617F and TET2 mutated chronic myeloproliferative neoplasm.一名伴有JAK2 V617F和TET2突变的慢性骨髓增殖性肿瘤患者中，del(7q)驱动白血病发生的动力学研究
Leuk Res Rep. 2013 Jul 4;2(2):51-3. doi: 10.1016/j.lrr.2013.06.001. eCollection 2013.
2
Chromosomal abnormalities in transformed Ph-negative myeloproliferative neoplasms are associated to the transformation subtype and independent of JAK2 and the TET2 mutations.转化型 Ph 阴性骨髓增殖性肿瘤中的染色体异常与转化亚型相关，且独立于 JAK2 和 TET2 突变。
Genes Chromosomes Cancer. 2010 Oct;49(10):919-27. doi: 10.1002/gcc.20802.
3
negative acute monocytic leukemia with TET2 mutation in essential thrombocythemia with mutation with literature review.原发性血小板增多症伴TET2突变的阴性急性单核细胞白血病及文献综述
Leuk Res Rep. 2020 Jan 16;13:100194. doi: 10.1016/j.lrr.2019.100194. eCollection 2020.
4
A novel del(8)(q23.2q24.11) contributing to disease progression in a case of JAK2/TET2 double mutated chronic myelomonocytic leukemia.
Leuk Res Rep. 2014 Nov 13;3(2):94-7. doi: 10.1016/j.lrr.2014.09.002. eCollection 2014.
5
Genomic trajectory in leukemogenesis of myeloproliferative neoplasms: a case report.骨髓增生性肿瘤白血病发生中的基因组轨迹：病例报告。
BMC Med Genomics. 2021 May 22;14(1):137. doi: 10.1186/s12920-021-00986-z.
6
Myeloid malignancies with isolated 7q deletion can be further characterized by their accompanying molecular mutations.孤立 7q 缺失的髓系恶性肿瘤可通过其伴随的分子突变进一步进行特征描述。
Genes Chromosomes Cancer. 2019 Oct;58(10):698-704. doi: 10.1002/gcc.22761. Epub 2019 May 1.
7
Clonal analysis of TET2 and JAK2 mutations suggests that TET2 can be a late event in the progression of myeloproliferative neoplasms.TET2 和 JAK2 突变的克隆分析表明，TET2 可能是骨髓增殖性肿瘤进展过程中的晚期事件。
Blood. 2010 Mar 11;115(10):2003-7. doi: 10.1182/blood-2009-09-245381. Epub 2010 Jan 8.
8
The role of JAK2 V617F mutation, spontaneous erythropoiesis and megakaryocytopoiesis, hypersensitive platelets, activated leukocytes, and endothelial cells in the etiology of thrombotic manifestations in polycythemia vera and essential thrombocythemia.JAK2 V617F突变、自发性红细胞生成和巨核细胞生成、高敏血小板、活化白细胞以及内皮细胞在真性红细胞增多症和原发性血小板增多症血栓形成表现病因中的作用。
Semin Thromb Hemost. 2006 Jun;32(4 Pt 2):381-98. doi: 10.1055/s-2006-942759.
9
JAK2 V617F-positive acute myeloid leukaemia (AML): a comparison between de novo AML and secondary AML transformed from an underlying myeloproliferative neoplasm. A study from the Bone Marrow Pathology Group.JAK2 V617F 阳性急性髓系白血病（AML）：初发 AML 与由潜在骨髓增殖性肿瘤转化而来的继发性 AML 的比较。来自骨髓病理学组的一项研究。
Br J Haematol. 2018 Jul;182(1):78-85. doi: 10.1111/bjh.15276. Epub 2018 May 16.
10
JAK2 V617F mutation in myelodysplastic syndrome, myelodysplastic syndrome/myeloproliferative neoplasm, unclassifiable, refractory anemia with ring sideroblasts with thrombocytosis, and acute myeloid leukemia.骨髓增生异常综合征、骨髓增生异常综合征/骨髓增殖性肿瘤（无法分类）、伴有血小板增多症的环形铁粒幼细胞难治性贫血及急性髓系白血病中的JAK2 V617F突变
Korean J Hematol. 2010 Mar;45(1):46-50. doi: 10.5045/kjh.2010.45.1.46. Epub 2010 Mar 31.

本文引用的文献

1
TET2 inactivation results in pleiotropic hematopoietic abnormalities in mouse and is a recurrent event during human lymphomagenesis.TET2 失活导致小鼠多能造血异常，并且是人类淋巴瘤发生过程中的反复事件。
Cancer Cell. 2011 Jul 12;20(1):25-38. doi: 10.1016/j.ccr.2011.06.003. Epub 2011 Jun 30.
2
New mutations and pathogenesis of myeloproliferative neoplasms.骨髓增殖性肿瘤的新突变和发病机制。
Blood. 2011 Aug 18;118(7):1723-35. doi: 10.1182/blood-2011-02-292102. Epub 2011 Jun 7.
3
Essential thrombocythemia versus early primary myelofibrosis: a multicenter study to validate the WHO classification.特发性血小板增多症与早期原发性骨髓纤维化：验证世界卫生组织分类的多中心研究。
Blood. 2011 May 26;117(21):5710-8. doi: 10.1182/blood-2010-07-293761. Epub 2011 Mar 29.
4
Chromosomal abnormalities in transformed Ph-negative myeloproliferative neoplasms are associated to the transformation subtype and independent of JAK2 and the TET2 mutations.转化型 Ph 阴性骨髓增殖性肿瘤中的染色体异常与转化亚型相关，且独立于 JAK2 和 TET2 突变。
Genes Chromosomes Cancer. 2010 Oct;49(10):919-27. doi: 10.1002/gcc.20802.
5
Clonal analysis of TET2 and JAK2 mutations suggests that TET2 can be a late event in the progression of myeloproliferative neoplasms.TET2 和 JAK2 突变的克隆分析表明，TET2 可能是骨髓增殖性肿瘤进展过程中的晚期事件。
Blood. 2010 Mar 11;115(10):2003-7. doi: 10.1182/blood-2009-09-245381. Epub 2010 Jan 8.
6
Two routes to leukemic transformation after a JAK2 mutation-positive myeloproliferative neoplasm.两种 JAK2 突变阳性骨髓增殖性肿瘤向白血病转化的途径。
Blood. 2010 Apr 8;115(14):2891-900. doi: 10.1182/blood-2009-08-236596. Epub 2009 Dec 11.
7
Mutation in TET2 in myeloid cancers.髓系癌症中TET2基因的突变。
N Engl J Med. 2009 May 28;360(22):2289-301. doi: 10.1056/NEJMoa0810069.
8
TET2 mutations and their clinical correlates in polycythemia vera, essential thrombocythemia and myelofibrosis.真性红细胞增多症、原发性血小板增多症和骨髓纤维化中的TET2突变及其临床相关性
Leukemia. 2009 May;23(5):905-11. doi: 10.1038/leu.2009.47. Epub 2009 Mar 5.
9
Leukemic blasts in transformed JAK2-V617F-positive myeloproliferative disorders are frequently negative for the JAK2-V617F mutation.在转化的JAK2-V617F阳性骨髓增殖性疾病中，白血病原始细胞的JAK2-V617F突变常常呈阴性。
Blood. 2007 Jul 1;110(1):375-9. doi: 10.1182/blood-2006-12-062125. Epub 2007 Mar 15.
10
Monosomy 7 and deletion 7q in children and adolescents with acute myeloid leukemia: an international retrospective study.儿童和青少年急性髓系白血病中的7号染色体单体和7q缺失：一项国际回顾性研究。
Blood. 2007 Jun 1;109(11):4641-7. doi: 10.1182/blood-2006-10-051342. Epub 2007 Feb 13.

一名伴有JAK2 V617F和TET2突变的慢性骨髓增殖性肿瘤患者中，del(7q)驱动白血病发生的动力学研究

Kinetics of del(7q) driven leukemogenesis in a patient with JAK2 V617F and TET2 mutated chronic myeloproliferative neoplasm.

作者信息

Herborg Laura Laine, Nederby Line, Kjeldsen Eigil, Grønbæk Kirsten, Hokland Peter, Hansen Maria, Celik Hansen Marcus, Roug Anne Stidsholt

机构信息

Department of Hematology, Aarhus University Hospital, Denmark.

Hemodiagnostic Laboratory, Section of Cancer Cytogenetics, Department of Hematology, Aarhus University Hospital, Denmark.

出版信息

Leuk Res Rep. 2013 Jul 4;2(2):51-3. doi: 10.1016/j.lrr.2013.06.001. eCollection 2013.

DOI:10.1016/j.lrr.2013.06.001
PMID:24371780
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3850390/
Abstract

Chronic myeloid neoplasms have susceptibility to transform into acute myeloid leukemia due to attainment of additional molecular lesions. We here describe the kinetics of a del(7q) driven leukemogenesis in a patient with multiple TET2 mutations and JAK2 V617F mutated chronic myeloproliferative neoplasm. The del(7q) emerged in the accelerated phase of disease, which was preceded by a lag phase of almost three years with normalized peripheral blood cell counts. Our results reveal that the del(7q), independently of other lesions, acts as a leukemic driver in this patient and that the stable long-lasting normalization of peripheral blood cell values concealed pending transformation.

摘要

由于获得了额外的分子病变，慢性髓系肿瘤易转化为急性髓系白血病。我们在此描述了一名患有多个TET2突变和JAK2 V617F突变的慢性髓性增殖性肿瘤患者中，由del(7q)驱动的白血病发生动力学。del(7q)出现在疾病的加速期，在此之前有近三年的外周血细胞计数正常的滞后阶段。我们的结果显示，在该患者中，del(7q)独立于其他病变，充当白血病驱动因素，并且外周血细胞值的稳定长期正常化掩盖了即将发生的转化。