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Mutational spectrum defines primary and secondary myelofibrosis.突变谱可区分原发性和继发性骨髓纤维化。
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Mutation status of essential thrombocythemia and primary myelofibrosis defines clinical outcome.原发性血小板增多症和原发性骨髓纤维化的突变状态决定临床结局。
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MIPSS70+ Version 2.0: Mutation and Karyotype-Enhanced International Prognostic Scoring System for Primary Myelofibrosis.MIPSS70+ 版本2.0:原发性骨髓纤维化的突变与核型增强国际预后评分系统
J Clin Oncol. 2018 Jun 10;36(17):1769-1770. doi: 10.1200/JCO.2018.78.9867. Epub 2018 Apr 30.
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Mutational analysis aids the diagnosis of primary myelofibrosis with atypical morphology.突变分析有助于非典型形态原发性骨髓纤维化的诊断。
Ann Hematol. 2018 Jun;97(6):1101-1102. doi: 10.1007/s00277-018-3280-2. Epub 2018 Feb 17.
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DNMT3A mutational analysis in primary myelofibrosis, chronic myelomonocytic leukemia and advanced phases of myeloproliferative neoplasms.原发性骨髓纤维化、慢性粒单核细胞白血病及骨髓增殖性肿瘤晚期阶段中DNMT3A的突变分析
Leukemia. 2011 Jul;25(7):1219-20. doi: 10.1038/leu.2011.82. Epub 2011 Apr 26.
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Identification of MPL W515L/K mutations in patients with primary myelofibrosis and essential thrombocythaemia by allele-specific polymerase chain reaction.通过等位基因特异性聚合酶链反应鉴定原发性骨髓纤维化和原发性血小板增多症患者中的MPL W515L/K突变。
Acta Haematol. 2009;121(4):221-2. doi: 10.1159/000224333. Epub 2009 Jun 10.
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[Primary myelofibrosis showing megakaryoblastic crisis: a case report].[原发性骨髓纤维化伴巨核母细胞危象:一例报告]
Rinsho Ketsueki. 1988 Feb;29(2):232-6.
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[An autopsy case of myelofibrosis with myeloid metaplasia terminating in blastic transformation with chromosomal aberration (i(17q))].[一例伴有髓外化生的骨髓纤维化尸检病例,最终发展为伴有染色体畸变(i(17q))的原始细胞转化]
Rinsho Ketsueki. 1984 Jun;25(6):864-9.
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Possibility of transformation of primary myelofibrosis to ALL without JAK2V617F mutation.原发性骨髓纤维化转化为无JAK2V617F突变的急性淋巴细胞白血病的可能性。
Med Oncol. 2013 Mar;30(1):398. doi: 10.1007/s12032-012-0398-2. Epub 2013 Jan 8.
10
Progression of mutant polycythemia vera to -mutant myelofibrosis severely impacts on disease phenotype and response to therapy.突变型真性红细胞增多症进展为突变型骨髓纤维化会严重影响疾病表型和对治疗的反应。
Leuk Lymphoma. 2019 Dec;60(13):3296-3299. doi: 10.1080/10428194.2019.1633634. Epub 2019 Jul 1.

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Emerging agents and regimens for polycythemia vera and essential thrombocythemia.真性红细胞增多症和原发性血小板增多症的新型药物及治疗方案
Biomark Res. 2021 May 28;9(1):40. doi: 10.1186/s40364-021-00298-5.
2
[Analysis of prognostic factors in Chinese patients with post-polycythemia vera myelofibrosis and post-essential thrombocythemia myelofibrosis].真性红细胞增多症后骨髓纤维化和原发性血小板增多症后骨髓纤维化中国患者的预后因素分析
Zhonghua Xue Ye Xue Za Zhi. 2016 Oct 14;37(10):876-880. doi: 10.3760/cma.j.issn.0253-2727.2016.10.012.
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The Hematopoietic Niche in Myeloproliferative Neoplasms.骨髓增殖性肿瘤中的造血微环境。
Mediators Inflamm. 2015;2015:347270. doi: 10.1155/2015/347270. Epub 2015 Nov 30.

本文引用的文献

1
Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2.伴有未突变 JAK2 的骨髓增殖性肿瘤中的体细胞 CALR 突变。
N Engl J Med. 2013 Dec 19;369(25):2391-2405. doi: 10.1056/NEJMoa1312542. Epub 2013 Dec 10.
2
Somatic mutations of calreticulin in myeloproliferative neoplasms.髓系增殖性肿瘤中的钙网织蛋白体细胞突变。
N Engl J Med. 2013 Dec 19;369(25):2379-90. doi: 10.1056/NEJMoa1311347. Epub 2013 Dec 10.
3
Array comparative genomic hybridization and sequencing of 23 genes in 80 patients with myelofibrosis at chronic or acute phase.对 80 例处于慢性或急性期的骨髓纤维化患者的 23 个基因进行阵列比较基因组杂交和测序。
Haematologica. 2014 Jan;99(1):37-45. doi: 10.3324/haematol.2013.091454. Epub 2013 Aug 30.
4
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.
5
Mutations in ASXL1 are associated with poor prognosis across the spectrum of malignant myeloid diseases.ASXL1 基因突变与恶性髓系疾病谱中的不良预后相关。
J Hematol Oncol. 2012 Mar 21;5:12. doi: 10.1186/1756-8722-5-12.
6
Myeloid neoplasms with isolated isochromosome 17q represent a clinicopathologic entity associated with myelodysplastic/myeloproliferative features, a high risk of leukemic transformation, and wild-type TP53.孤立性 17q 等臂染色体髓系肿瘤是一种临床病理实体,与骨髓增生异常/骨髓增殖性特征、白血病转化风险高和野生型 TP53 相关。
Cancer. 2012 Jun 1;118(11):2879-88. doi: 10.1002/cncr.26537. Epub 2011 Oct 28.
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
DIPSS plus: a refined Dynamic International Prognostic Scoring System for primary myelofibrosis that incorporates prognostic information from karyotype, platelet count, and transfusion status.DIPSS plus:一种改良的原发性骨髓纤维化动态国际预后评分系统,纳入了核型、血小板计数和输血状态的预后信息。
J Clin Oncol. 2011 Feb 1;29(4):392-7. doi: 10.1200/JCO.2010.32.2446. Epub 2010 Dec 13.
9
Mutations of the TET2 and CBL genes: novel molecular markers in myeloid malignancies.TET2 和 CBL 基因突变:髓系恶性肿瘤的新型分子标志物。
Ann Hematol. 2010 Jul;89(7):643-52. doi: 10.1007/s00277-010-0920-6. Epub 2010 Mar 2.
10
A dynamic prognostic model to predict survival in primary myelofibrosis: a study by the IWG-MRT (International Working Group for Myeloproliferative Neoplasms Research and Treatment).原发性骨髓纤维化患者生存的动态预后模型:国际骨髓增生性肿瘤研究和治疗工作组(IWG-MRT)的一项研究。
Blood. 2010 Mar 4;115(9):1703-8. doi: 10.1182/blood-2009-09-245837. Epub 2009 Dec 14.

Mutational spectrum defines primary and secondary myelofibrosis.

作者信息

Mills Ken I, McMullin Mary Frances

出版信息

Haematologica. 2014 Jan;99(1):2-3. doi: 10.3324/haematol.2013.101279.

DOI:10.3324/haematol.2013.101279
PMID:24425686
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4007941/
Abstract
摘要