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.
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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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.
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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.
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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.
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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.
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