JAK2 V617F突变可识别出一组骨髓增生异常综合征（MDS）患者，这些患者存在孤立性5号染色体长臂缺失且骨髓呈增殖性。 - Suppr

The JAK2 V617F mutation identifies a subgroup of MDS patients with isolated deletion 5q and a proliferative bone marrow.

作者信息

Ingram W, Lea N C, Cervera J, Germing U, Fenaux P, Cassinat B, Kiladjian J J, Varkonyi J, Antunovic P, Westwood N B, Arno M J, Mohamedali A, Gaken J, Kontou T, Czepulkowski B H, Twine N A, Tamaska J, Csomer J, Benedek S, Gattermann N, Zipperer E, Giagounidis A, Garcia-Casado Z, Sanz G, Mufti G J

出版信息

Leukemia. 2006 Jul;20(7):1319-21. doi: 10.1038/sj.leu.2404215. Epub 2006 Apr 13.

DOI:10.1038/sj.leu.2404215

PMID:16617322

Abstract

摘要

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The JAK2 V617F mutation identifies a subgroup of MDS patients with isolated deletion 5q and a proliferative bone marrow.JAK2 V617F突变可识别出一组骨髓增生异常综合征（MDS）患者，这些患者存在孤立性5号染色体长臂缺失且骨髓呈增殖性。

Leukemia. 2006 Jul;20(7):1319-21. doi: 10.1038/sj.leu.2404215. Epub 2006 Apr 13.

Bone marrow phospho-STAT5 expression in non-CML chronic myeloproliferative disorders correlates with JAK2 V617F mutation and provides evidence of in vivo JAK2 activation.非慢性粒细胞白血病慢性骨髓增殖性疾病中骨髓磷酸化信号转导及转录激活因子5（phospho-STAT5）表达与JAK2 V617F突变相关，并为体内JAK2激活提供证据。

Am J Surg Pathol. 2007 Feb;31(2):233-9. doi: 10.1097/01.pas.0000213338.25111.d3.

Histological and molecular classification of chronic myeloproliferative disorders in the age of JAK2: persistence of old questions despite new answers.JAK2时代慢性骨髓增殖性疾病的组织学和分子分类：尽管有了新答案，但老问题依然存在。

Pathobiology. 2007;74(2):72-80. doi: 10.1159/000099120.

The 2001 World Health Organization and updated European clinical and pathological criteria for the diagnosis, classification, and staging of the Philadelphia chromosome-negative chronic myeloproliferative disorders.2001年世界卫生组织以及更新后的欧洲关于费城染色体阴性慢性骨髓增殖性疾病的诊断、分类及分期的临床和病理标准。

Semin Thromb Hemost. 2006 Jun;32(4 Pt 2):307-40. doi: 10.1055/s-2006-942754.

Frequent detection of the JAK2 V617F mutation in bone marrow core biopsy specimens from chronic myeloproliferative disorders using the TaqMan polymerase chain reaction single nucleotide polymorphism genotyping assay: a retrospective study with pathologic correlations.运用TaqMan聚合酶链反应单核苷酸多态性基因分型检测法在慢性骨髓增殖性疾病骨髓活检标本中频繁检测JAK2 V617F突变：一项具有病理相关性的回顾性研究

Hum Pathol. 2006 Nov;37(11):1458-64. doi: 10.1016/j.humpath.2006.05.006. Epub 2006 Jul 26.

JAK2 (V617F) as an acquired somatic mutation and a secondary genetic event associated with disease progression in familial myeloproliferative disorders.JAK2（V617F）作为一种获得性体细胞突变以及与家族性骨髓增殖性疾病疾病进展相关的继发性遗传事件。

Cancer. 2006 Nov 1;107(9):2206-11. doi: 10.1002/cncr.22240.

JAK2(V617F) mutation in myelodysplastic syndrome (MDS) with del(5q) arises in genetically discordant clones.骨髓增生异常综合征（MDS）伴 del(5q)中 JAK2(V617F) 突变源自遗传上不同的克隆。

Leuk Res. 2010 Jun;34(6):821-3. doi: 10.1016/j.leukres.2009.09.016. Epub 2009 Oct 9.

High prevalence of the JAK2 V617F mutation in patients with extrahepatic portal vein thrombosis.肝外门静脉血栓形成患者中JAK2 V617F突变的高患病率。

Hepatology. 2007 Mar;45(3):831-2; author reply 832-3. doi: 10.1002/hep.21601.

Detection of the activating JAK2 V617F mutation in paraffin-embedded trephine bone marrow biopsies of patients with chronic myeloproliferative diseases.在慢性骨髓增殖性疾病患者石蜡包埋的骨髓活检组织中检测激活型JAK2 V617F突变。

J Mol Diagn. 2006 Jul;8(3):299-304. doi: 10.2353/jmoldx.2006.050128.

Angiogenesis and vascular endothelial growth factor-/receptor expression in myeloproliferative neoplasms: correlation with clinical parameters and JAK2-V617F mutational status.骨髓增殖性肿瘤中的血管生成及血管内皮生长因子/受体表达：与临床参数及JAK2-V617F突变状态的相关性

Br J Haematol. 2009 Jul;146(2):150-7. doi: 10.1111/j.1365-2141.2009.07726.x. Epub 2009 May 19.

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Myeloid sarcoma in JAK2-positive myelodysplastic neoplasms with fibrosis: a case report and literature review.伴有纤维化的JAK2阳性骨髓增生异常肿瘤中的髓系肉瘤：一例报告及文献综述

J Int Med Res. 2024 Aug;52(8):3000605241266590. doi: 10.1177/03000605241266590.

Diagnostic challenges and proposed classification of myeloid neoplasms with overlapping features of thrombocytosis, ring sideroblasts and concurrent del(5q) and mutations.具有血小板增多、环形铁粒幼细胞以及同时存在的del(5q)和突变重叠特征的髓系肿瘤的诊断挑战及拟议分类

Haematologica. 2024 Aug 1;109(8):2676-2681. doi: 10.3324/haematol.2023.284599.

Mutations Are Rare and Diverse in Myelodysplastic Syndromes: Case Series and Review of the Literature.骨髓增生异常综合征中的突变罕见且多样：病例系列及文献综述

Hematol Rep. 2023 Jan 18;15(1):73-87. doi: 10.3390/hematolrep15010008.

Myelodysplastic Syndromes with Isolated del(5q): Value of Molecular Alterations for Diagnostic and Prognostic Assessment.伴有孤立性5号染色体长臂缺失的骨髓增生异常综合征：分子改变对诊断和预后评估的价值

Cancers (Basel). 2022 Nov 10;14(22):5531. doi: 10.3390/cancers14225531.

Hybrid or Mixed Myelodysplastic/Myeloproliferative Disorders - Epidemiological Features and Overview.混合性或重叠性骨髓增生异常/骨髓增殖性疾病——流行病学特征与概述

Front Oncol. 2021 Nov 16;11:778741. doi: 10.3389/fonc.2021.778741. eCollection 2021.

Molecular Targeted Therapy and Immunotherapy for Myelodysplastic Syndrome.骨髓增生异常综合征的分子靶向治疗和免疫治疗。

Int J Mol Sci. 2021 Sep 23;22(19):10232. doi: 10.3390/ijms221910232.

Myelodysplastic syndromes and overlap syndromes.骨髓增生异常综合征及重叠综合征

Blood Res. 2021 Apr 30;56(S1):S51-S64. doi: 10.5045/br.2021.2021010.

[Myelodysplastic syndrome with chromosome 5q deletion and philadelphia chromosome: case report and literatures review].[伴有5号染色体长臂缺失及费城染色体的骨髓增生异常综合征：病例报告及文献复习]

Zhonghua Xue Ye Xue Za Zhi. 2020 Nov 14;41(11):940-942. doi: 10.3760/cma.j.issn.0253-2727.2020.11.011.

Mutation-Driven Therapy in MDS.MDS 中的驱动突变治疗。

Curr Hematol Malig Rep. 2019 Dec;14(6):550-560. doi: 10.1007/s11899-019-00554-4.

Myeloid neoplasms with isolated del(5q) and V617F mutation: a "grey zone" combination of myelodysplastic and myeloproliferative features?伴有孤立性5号染色体长臂缺失（del(5q)）和V617F突变的髓系肿瘤：一种具有骨髓增生异常和骨髓增殖性特征的“灰色地带”组合？

Haematologica. 2020 Jun;105(6):e276-e279. doi: 10.3324/haematol.2019.227686. Epub 2019 Sep 26.

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The JAK2 V617F mutation identifies a subgroup of MDS patients with isolated deletion 5q and a proliferative bone marrow.

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