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Detection and characterization of homozygosity of mutated by copy neutral loss of heterozygosity in myeloproliferative neoplasms among cases with high mutation loads or with progressive disease.

作者信息

Stengel Anna, Jeromin Sabine, Haferlach Torsten, Meggendorfer Manja, Kern Wolfgang, Haferlach Claudia

机构信息

MLL Munich Leukemia Laboratory, Germany

MLL Munich Leukemia Laboratory, Germany.

出版信息

Haematologica. 2019 May;104(5):e187-e190. doi: 10.3324/haematol.2018.202952. Epub 2018 Nov 8.

DOI:10.3324/haematol.2018.202952
PMID:30409794
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6518876/
Abstract
摘要

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Detection and characterization of homozygosity of mutated by copy neutral loss of heterozygosity in myeloproliferative neoplasms among cases with high mutation loads or with progressive disease.在具有高突变负荷或疾病进展的骨髓增殖性肿瘤病例中，通过杂合性拷贝中性缺失检测和鉴定突变的纯合性。
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本文引用的文献

1
The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia.2016 年版世界卫生组织髓系肿瘤和急性白血病分类。
Blood. 2016 May 19;127(20):2391-405. doi: 10.1182/blood-2016-03-643544. Epub 2016 Apr 11.
2
Homozygous calreticulin mutations in patients with myelofibrosis lead to acquired myeloperoxidase deficiency.骨髓纤维化患者中钙网织蛋白的纯合突变导致获得性髓过氧化物酶缺乏。
Blood. 2016 Jun 23;127(25):3253-9. doi: 10.1182/blood-2016-02-696310. Epub 2016 Mar 24.
3
Polycythemia Vera: An Appraisal of the Biology and Management 10 Years After the Discovery of JAK2 V617F.真性红细胞增多症：JAK2 V617F发现10年后的生物学与管理评估
J Clin Oncol. 2015 Nov 20;33(33):3953-60. doi: 10.1200/JCO.2015.61.6474. Epub 2015 Aug 31.
4
Next-generation deep-sequencing detects multiple clones of CALR mutations in patients with BCR-ABL1 negative MPN.下一代深度测序可检测出BCR-ABL1阴性骨髓增殖性肿瘤患者中CALR突变的多个克隆。
Leukemia. 2016 Apr;30(4):973-6. doi: 10.1038/leu.2015.207. Epub 2015 Jul 29.
5
Genetic variation at MECOM, TERT, JAK2 and HBS1L-MYB predisposes to myeloproliferative neoplasms.MECOM、TERT、JAK2以及HBS1L-MYB基因的变异易引发骨髓增殖性肿瘤。
Nat Commun. 2015 Apr 7;6:6691. doi: 10.1038/ncomms7691.
6
CALR mutations in myeloproliferative neoplasms: hidden behind the reticulum.骨髓增殖性肿瘤中的CALR突变：隐藏在网状结构之后。
Am J Hematol. 2014 May;89(5):453-6. doi: 10.1002/ajh.23678. Epub 2014 Mar 11.
7
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.
8
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.
9
Targeted re-sequencing analysis of 25 genes commonly mutated in myeloid disorders in del(5q) myelodysplastic syndromes.针对 del(5q) 骨髓增生异常综合征中常见的 25 个髓系疾病相关基因突变的靶向重测序分析。
Haematologica. 2013 Dec;98(12):1856-64. doi: 10.3324/haematol.2013.086686. Epub 2013 Jul 5.
10
TP53 mutations in low-risk myelodysplastic syndromes with del(5q) predict disease progression.低危伴有 del(5q)的骨髓增生异常综合征中 TP53 突变可预测疾病进展。
J Clin Oncol. 2011 May 20;29(15):1971-9. doi: 10.1200/JCO.2010.31.8576. Epub 2011 Apr 25.