骨髓增殖性肿瘤和急性髓系白血病中JAK2 46/1单倍型分析 - Suppr

JAK2 46/1 haplotype analysis in myeloproliferative neoplasms and acute myeloid leukemia.

作者信息

Andrikovics H, Nahajevszky S, Koszarska M, Meggyesi N, Bors A, Halm G, Lueff S, Lovas N, Matrai Z, Csomor J, Rasonyi R, Egyed M, Varkonyi J, Mikala G, Sipos A, Kozma A, Adam E, Fekete S, Masszi T, Tordai A

出版信息

Leukemia. 2010 Oct;24(10):1809-13. doi: 10.1038/leu.2010.172. Epub 2010 Sep 2.

DOI:10.1038/leu.2010.172

PMID:20811399

Abstract

摘要

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JAK2 46/1 haplotype analysis in myeloproliferative neoplasms and acute myeloid leukemia.骨髓增殖性肿瘤和急性髓系白血病中JAK2 46/1单倍型分析

Leukemia. 2010 Oct;24(10):1809-13. doi: 10.1038/leu.2010.172. Epub 2010 Sep 2.

MPL mutation effect on JAK2 46/1 haplotype frequency in JAK2V617F-negative myeloproliferative neoplasms.MPL突变对JAK2V617F阴性骨髓增殖性肿瘤中JAK2 46/1单倍型频率的影响。

Leukemia. 2010 Apr;24(4):859-60. doi: 10.1038/leu.2010.1. Epub 2010 Jan 28.

Analysis of the progression of JAK2 V617F positive myeloproliferative neoplasms by single-nucleotide polymorphism array does not reveal a strong chromosomal instability.

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Co-occurrence of Myeloproliferative Neoplasms and Solid Tumors Is Attributed to a Synergism Between Cytoreductive Therapy and the Common TERT Polymorphism rs2736100.骨髓增殖性肿瘤与实体瘤的同时出现归因于细胞减灭疗法与常见的端粒酶逆转录酶（TERT）基因多态性rs2736100之间的协同作用。

Cancer Epidemiol Biomarkers Prev. 2016 Jan;25(1):98-104. doi: 10.1158/1055-9965.EPI-15-0805. Epub 2015 Oct 20.

JAK2V617F allele burden, JAK2 46/1 haplotype and clinical features of Chinese with myeloproliferative neoplasms.中国骨髓增殖性肿瘤患者的JAK2V617F等位基因负荷、JAK2 46/1单倍型及临床特征

Leukemia. 2013 Aug;27(8):1763-7. doi: 10.1038/leu.2013.21. Epub 2013 Jan 22.

The G allele of the JAK2 rs10974944 SNP, part of JAK2 46/1 haplotype, is strongly associated with JAK2 V617F-positive myeloproliferative neoplasms.JAK2 rs10974944 SNP 的 G 等位基因是 JAK2 46/1 单倍型的一部分，与 JAK2 V617F 阳性骨髓增殖性肿瘤密切相关。

Ann Hematol. 2010 Oct;89(10):979-83. doi: 10.1007/s00277-010-0960-y. Epub 2010 Apr 27.

The JAK2 46/1 haplotype does not predispose to CALR-mutated myeloproliferative neoplasms.JAK2 46/1单倍型不会使患CALR突变型骨髓增殖性肿瘤的风险增加。

Ann Hematol. 2015 May;94(5):789-94. doi: 10.1007/s00277-014-2266-y. Epub 2014 Dec 9.

JAK2V617F mutation persists in blasts and mature cells of transformed JAK2V617F-positive-myeloproliferative neoplasia: a European Leukemia Net (ENL) study.JAK2V617F突变在转化型JAK2V617F阳性骨髓增殖性肿瘤的原始细胞和成熟细胞中持续存在：一项欧洲白血病网（ELN）研究。

Am J Hematol. 2010 May;85(5):383-6. doi: 10.1002/ajh.21687.

JAK2V617F as progression marker in CMPD and as cooperative mutation in AML with trisomy 8 and t(8;21): a comparative study on 1103 CMPD and 269 AML cases.JAK2V617F作为慢性髓性增殖性疾病（CMPD）的进展标志物以及作为伴8号染色体三体和t(8;21)的急性髓系白血病（AML）中的协同突变：对1103例CMPD和269例AML病例的比较研究

Leukemia. 2007 Aug;21(8):1843-5. doi: 10.1038/sj.leu.2404707. Epub 2007 Apr 19.

JAK2 V617F-mutated myeloproliferative neoplasia developing five years after wild-type JAK2 acute myeloid leukemia: a case report.野生型JAK2急性髓系白血病5年后发生JAK2 V617F突变的骨髓增殖性肿瘤：1例报告

Acta Haematol. 2013;129(1):23-5. doi: 10.1159/000342100. Epub 2012 Sep 19.

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Exploring hematological alterations and genetics linked to SNV rs10974944 in myeloproliferative neoplasms among Amazon patients.探索亚马逊地区患者骨髓增殖性肿瘤中与单核苷酸变异rs10974944相关的血液学改变和遗传学特征。

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The Contribution of 46/1 Haplotype in the Predisposition to Myeloproliferative Neoplasms.46/1 单体型在骨髓增殖性肿瘤易感性中的作用。

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Essential thrombocythaemia progression to the fibrotic phase is associated with a decrease in JAK2 and PDL1 levels.原发性血小板增多症向纤维化期进展与 JAK2 和 PDL1 水平降低有关。

Ann Hematol. 2022 Dec;101(12):2665-2677. doi: 10.1007/s00277-022-05001-8. Epub 2022 Oct 21.

Advances in germline predisposition to acute leukaemias and myeloid neoplasms.急性白血病和髓系肿瘤的种系易感性研究进展。

Nat Rev Cancer. 2021 Feb;21(2):122-137. doi: 10.1038/s41568-020-00315-z. Epub 2020 Dec 16.

The JAK2 GGCC (46/1) Haplotype in Myeloproliferative Neoplasms: Causal or Random?骨髓增殖性肿瘤中的 JAK2 GGCC（46/1）单倍型：是因果关系还是随机现象？

Int J Mol Sci. 2018 Apr 11;19(4):1152. doi: 10.3390/ijms19041152.

Association between JAK2 rs4495487 Polymorphism and Risk of Budd-Chiari Syndrome in China.中国JAK2基因rs4495487多态性与布加综合征风险的关联

Gastroenterol Res Pract. 2015;2015:807865. doi: 10.1155/2015/807865. Epub 2015 Oct 18.

The role of genotypes that modify the toxicity of chemical mutagens in the risk for myeloproliferative neoplasms.修饰化学诱变剂毒性的基因型在骨髓增殖性肿瘤风险中的作用。

Int J Environ Res Public Health. 2015 Feb 24;12(3):2465-85. doi: 10.3390/ijerph120302465.

JAK2 V617F, MPL, and CALR mutations in essential thrombocythaemia and major thrombotic complications: a single-institute retrospective analysis.真性红细胞增多症和主要血栓并发症中的JAK2 V617F、MPL及CALR突变：一项单机构回顾性分析

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Distinct clinical characteristics of myeloproliferative neoplasms with calreticulin mutations.伴有钙网蛋白突变的骨髓增殖性肿瘤的独特临床特征。

Haematologica. 2014 Jul;99(7):1184-90. doi: 10.3324/haematol.2014.107482. Epub 2014 Jun 3.

Inherited predisposition to myeloproliferative neoplasms.遗传易感性与骨髓增殖性肿瘤。

Ther Adv Hematol. 2013 Aug;4(4):237-53. doi: 10.1177/2040620713489144.

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JAK2 46/1 haplotype analysis in myeloproliferative neoplasms and acute myeloid leukemia.

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