Mutations of JAK2 and TET2, but not CBL are detectable in a high portion of patients with refractory anemia with ring sideroblasts and thrombocytosis.
作者信息
Flach Johanna, Dicker Frank, Schnittger Susanne, Kohlmann Alexander, Haferlach Torsten, Haferlach Claudia
出版信息
Haematologica. 2010 Mar;95(3):518-9. doi: 10.3324/haematol.2009.013631. Epub 2009 Nov 10.
Abstract
摘要
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1
Mutations of JAK2 and TET2, but not CBL are detectable in a high portion of patients with refractory anemia with ring sideroblasts and thrombocytosis.在大部分伴有环形铁粒幼细胞和血小板增多的难治性贫血患者中可检测到JAK2和TET2的突变，但未检测到CBL的突变。
Haematologica. 2010 Mar;95(3):518-9. doi: 10.3324/haematol.2009.013631. Epub 2009 Nov 10.
2
Development of refractory anemia with ring sideroblasts associated with thrombocytosis from pre-existing refractory anemia with ring sideroblasts through acquisition of Jak2 V617F mutation.伴有环形铁粒幼细胞的难治性贫血伴血小板增多症从既往存在的伴有环形铁粒幼细胞的难治性贫血通过获得Jak2 V617F突变发展而来。
Leuk Lymphoma. 2011 Dec;52(12):2405-7. doi: 10.3109/10428194.2011.597907. Epub 2011 Aug 1.
3
Spectrum of mutations in RARS-T patients includes TET2 and ASXL1 mutations.RARS-T 患者的突变谱包括 TET2 和 ASXL1 突变。
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4
High occurrence of JAK2 V617 mutation in refractory anemia with ringed sideroblasts associated with marked thrombocytosis.伴有显著血小板增多的环形铁粒幼细胞难治性贫血中JAK2 V617突变的高发生率。
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Prognostic interaction between thrombocytosis and JAK2 V617F mutation in the WHO subcategories of myelodysplastic/myeloproliferative disease-unclassifiable and refractory anemia with ringed sideroblasts and marked thrombocytosis.血小板增多症与JAK2 V617F突变在世界卫生组织未分类的骨髓增生异常/骨髓增殖性疾病及伴有环形铁粒幼细胞和显著血小板增多症的难治性贫血亚类中的预后相互作用。
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6
Occurrence of the JAK2 V617F mutation in the WHO provisional entity: myelodysplastic/myeloproliferative disease, unclassifiable-refractory anemia with ringed sideroblasts associated with marked thrombocytosis.世界卫生组织临时分类实体中JAK2 V617F突变的发生情况：骨髓增生异常/骨髓增殖性疾病，无法分类的——伴有明显血小板增多症的环形铁粒幼细胞难治性贫血。
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Efficacy of single-agent lenalidomide in patients with JAK2 (V617F) mutated refractory anemia with ring sideroblasts and thrombocytosis.来那度胺单药治疗 JAK2(V617F)突变型难治性环形铁幼粒细胞伴血小板增多性贫血的疗效。
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The JAK2-V617F mutation and essential thrombocythemia features in a subset of patients with refractory anemia with ring sideroblasts (RARS).伴有环形铁粒幼细胞的难治性贫血（RARS）患者亚组中的JAK2-V617F突变及真性红细胞增多症特征
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Refractory anemia with ringed sideroblasts and thrombocytosis without JAK2 V617F mutation: report of three cases.无JAK2 V617F突变的伴有环形铁粒幼细胞和血小板增多的难治性贫血：三例报告
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Refractory anemia with ringed sideroblasts associated with marked thrombocytosis harbors JAK2 mutation and shows overlapping myeloproliferative and myelodysplastic features.伴有明显血小板增多症的环形铁粒幼细胞难治性贫血存在JAK2突变，并表现出骨髓增殖和骨髓发育异常特征的重叠。
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Alterations of 5-hydroxymethylcytosine in human cancers.人类癌症中 5-羟甲基胞嘧啶的改变。
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Molecular and clinical features of refractory anemia with ringed sideroblasts associated with marked thrombocytosis.伴有显著血小板增多的环形铁粒幼细胞难治性贫血的分子和临床特征
Blood. 2009 Oct 22;114(17):3538-45. doi: 10.1182/blood-2009-05-222331. Epub 2009 Aug 19.
2
TET2 mutations in myelodysplasia and myeloid malignancies.骨髓增生异常综合征和髓系恶性肿瘤中的TET2突变
Nat Genet. 2009 Jul;41(7):766-7. doi: 10.1038/ng0709-766.
3
Novel TET2 mutations associated with UPD4q24 in myelodysplastic syndrome.与骨髓增生异常综合征中4号染色体长臂24区单亲二倍体相关的新型TET2突变
J Clin Oncol. 2009 Aug 20;27(24):4002-6. doi: 10.1200/JCO.2009.22.6985. Epub 2009 Jun 15.
4
Acquired mutations in TET2 are common in myelodysplastic syndromes.TET2基因的获得性突变在骨髓增生异常综合征中很常见。
Nat Genet. 2009 Jul;41(7):838-42. doi: 10.1038/ng.391. Epub 2009 May 31.
5
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.
6
Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms.在骨髓增殖性肿瘤中，与11号染色体获得性单亲二体相关的常见CBL突变。
Blood. 2009 Jun 11;113(24):6182-92. doi: 10.1182/blood-2008-12-194548. Epub 2009 Apr 22.
7
Loss of heterozygosity 4q24 and TET2 mutations associated with myelodysplastic/myeloproliferative neoplasms.与骨髓增生异常/骨髓增殖性肿瘤相关的4q24杂合性缺失和TET2突变
Blood. 2009 Jun 18;113(25):6403-10. doi: 10.1182/blood-2009-02-205690. Epub 2009 Apr 16.
8
Detection of mutant TET2 in myeloid malignancies other than myeloproliferative neoplasms: CMML, MDS, MDS/MPN and AML.除骨髓增殖性肿瘤外的髓系恶性肿瘤中突变型TET2的检测：慢性粒-单核细胞白血病、骨髓增生异常综合征、骨髓增生异常综合征/骨髓增殖性肿瘤和急性髓系白血病。
Leukemia. 2009 Jul;23(7):1343-5. doi: 10.1038/leu.2009.59. Epub 2009 Mar 19.
9
UPD1p indicates the presence of MPL W515L mutation in RARS-T, a mechanism analogous to UPD9p and JAK2 V617F mutation.UPD1p表明RARS-T中存在MPL W515L突变，这一机制类似于UPD9p和JAK2 V617F突变。
Leukemia. 2009 Mar;23(3):610-4. doi: 10.1038/leu.2008.249. Epub 2008 Sep 25.
10
JAK2V617F mutation status identifies subtypes of refractory anemia with ringed sideroblasts associated with marked thrombocytosis.JAK2V617F突变状态可识别伴有显著血小板增多的环形铁粒幼细胞难治性贫血的亚型。
Haematologica. 2008 Jan;93(1):34-40. doi: 10.3324/haematol.11581.
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