High frequencies of SF3B1 and JAK2 mutations in refractory anemia with ring sideroblasts associated with marked thrombocytosis strengthen the assignment to the category of myelodysplastic/myeloproliferative neoplasms.
作者信息
Jeromin Sabine, Haferlach Torsten, Grossmann Vera, Alpermann Tamara, Kowarsch Andreas, Haferlach Claudia, Kern Wolfgang, Schnittger Susanne
机构信息
MLL Munich Leukemia Laboratory, Germany.
出版信息
Haematologica. 2013 Feb;98(2):e15-7. doi: 10.3324/haematol.2012.072538. Epub 2012 Aug 28.
Abstract
摘要
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1
High frequencies of SF3B1 and JAK2 mutations in refractory anemia with ring sideroblasts associated with marked thrombocytosis strengthen the assignment to the category of myelodysplastic/myeloproliferative neoplasms.伴有显著血小板增多的环形铁粒幼细胞难治性贫血中，SF3B1和JAK2突变的高频率强化了其归为骨髓增生异常/骨髓增殖性肿瘤类别的判定。
Haematologica. 2013 Feb;98(2):e15-7. doi: 10.3324/haematol.2012.072538. Epub 2012 Aug 28.
2
Refractory anemia with ring sideroblasts and marked thrombocytosis cases harbor mutations in SF3B1 or other spliceosome genes accompanied by JAK2V617F and ASXL1 mutations.伴有环形铁粒幼细胞和显著血小板增多症的难治性贫血病例存在SF3B1或其他剪接体基因的突变，并伴有JAK2V617F和ASXL1突变。
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本文引用的文献
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Clinical features and course of refractory anemia with ring sideroblasts associated with marked thrombocytosis.伴有显著血小板增多的难治性环形铁幼粒细胞性贫血的临床特征和病程。
Haematologica. 2012 Jul;97(7):1036-41. doi: 10.3324/haematol.2011.053918. Epub 2012 Apr 24.
2
Mutation analysis of ASXL1, CBL, DNMT3A, IDH1, IDH2, JAK2, MPL, NF1, SF3B1, SUZ12, and TET2 in myeloproliferative neoplasms.骨髓增殖性肿瘤中 ASXL1、CBL、DNMT3A、IDH1、IDH2、JAK2、MPL、NF1、SF3B1、SUZ12 和 TET2 的突变分析。
Genes Chromosomes Cancer. 2012 Aug;51(8):743-55. doi: 10.1002/gcc.21960. Epub 2012 Apr 9.
3
Mutations affecting mRNA splicing define distinct clinical phenotypes and correlate with patient outcome in myelodysplastic syndromes.影响 mRNA 剪接的突变定义了不同的临床表型，并与骨髓增生异常综合征患者的预后相关。
Blood. 2012 Apr 5;119(14):3211-8. doi: 10.1182/blood-2011-12-400994. Epub 2012 Feb 17.
4
Mutations in the spliceosome machinery, a novel and ubiquitous pathway in leukemogenesis.剪接体机制中的突变，白血病发生中的一个新的普遍途径。
Blood. 2012 Apr 5;119(14):3203-10. doi: 10.1182/blood-2011-12-399774. Epub 2012 Feb 9.
5
SF3B1 mutations in myelodysplastic syndromes: clinical associations and prognostic implications.骨髓增生异常综合征中的SF3B1突变：临床关联及预后意义
Leukemia. 2012 May;26(5):1137-40. doi: 10.1038/leu.2011.321. Epub 2011 Nov 8.
6
Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms.SF3B1 突变在骨髓增生异常综合征和骨髓增生异常/骨髓增殖性肿瘤中的临床意义。
Blood. 2011 Dec 8;118(24):6239-46. doi: 10.1182/blood-2011-09-377275. Epub 2011 Oct 12.
7
Frequent pathway mutations of splicing machinery in myelodysplasia.骨髓增生异常综合征中剪接机制的频繁通路突变。
Nature. 2011 Sep 11;478(7367):64-9. doi: 10.1038/nature10496.
8
SF3B1, a splicing factor is frequently mutated in refractory anemia with ring sideroblasts.SF3B1是一种剪接因子，在伴有环形铁粒幼细胞的难治性贫血中经常发生突变。
Leukemia. 2012 Mar;26(3):542-5. doi: 10.1038/leu.2011.232. Epub 2011 Sep 2.
9
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.
10
Detection of JAK2 exon 12 mutations in 15 patients with JAK2V617F negative polycythemia vera.15例JAK2V617F阴性真性红细胞增多症患者中JAK2外显子12突变的检测
Haematologica. 2009 Mar;94(3):414-8. doi: 10.3324/haematol.13223.
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