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Clinical acceleration of p.V617F driven myeloproliferative disease due to a new uncommon homozygous p.Y591D mutation.

作者信息

Ong Jeremy, Lin Jane I, Mitchell Helen, Morgan Susan, Perkins Andrew C

机构信息

Department of Pathology, Alfred Health, Melbourne, Australia.

Department of Clinical Haematology, Alfred Health, Melbourne, Australia.

出版信息

Haematologica. 2020 Aug;105(8):e428-e431. doi: 10.3324/haematol.2020.250969. Epub 2020 Jun 4.

DOI:10.3324/haematol.2020.250969
PMID:32499240
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7395288/
Abstract
摘要

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本文引用的文献

1
COSMIC: the Catalogue Of Somatic Mutations In Cancer.COSMIC:癌症体细胞突变目录。
Nucleic Acids Res. 2019 Jan 8;47(D1):D941-D947. doi: 10.1093/nar/gky1015.
2
Classification and Personalized Prognosis in Myeloproliferative Neoplasms.骨髓增殖性肿瘤的分类与个体化预后
N Engl J Med. 2018 Oct 11;379(15):1416-1430. doi: 10.1056/NEJMoa1716614.
3
Clinical Significance of DNA Variants in Chronic Myeloid Neoplasms: A Report of the Association for Molecular Pathology.慢性髓性肿瘤中 DNA 变异的临床意义:分子病理学协会报告。
J Mol Diagn. 2018 Nov;20(6):717-737. doi: 10.1016/j.jmoldx.2018.07.002. Epub 2018 Aug 20.
4
Coexisting driver mutations in MPN: clinical and molecular characteristics of a series of 11 patients.骨髓增殖性肿瘤中并存的驱动基因突变:11例患者系列的临床和分子特征
Hematology. 2018 Dec;23(10):785-792. doi: 10.1080/10245332.2018.1498182. Epub 2018 Jul 11.
5
Targeted deep sequencing in polycythemia vera and essential thrombocythemia.真性红细胞增多症和原发性血小板增多症中的靶向深度测序
Blood Adv. 2016 Nov 22;1(1):21-30. doi: 10.1182/bloodadvances.2016000216. eCollection 2016 Nov 29.
6
Genetic Risk Assessment in Myeloproliferative Neoplasms.骨髓增殖性肿瘤的遗传风险评估
Mayo Clin Proc. 2017 Aug;92(8):1283-1290. doi: 10.1016/j.mayocp.2017.06.002.
7
Detection of CALR and MPL Mutations in Low Allelic Burden JAK2 V617F Essential Thrombocythemia.低等位基因负担JAK2 V617F原发性血小板增多症中CALR和MPL突变的检测
J Mol Diagn. 2017 Jan;19(1):92-98. doi: 10.1016/j.jmoldx.2016.08.006. Epub 2016 Nov 14.
8
Visualizing tumor evolution with the fishplot package for R.使用R语言的fishplot包可视化肿瘤演变。
BMC Genomics. 2016 Nov 7;17(1):880. doi: 10.1186/s12864-016-3195-z.
9
Rapid Molecular Profiling of Myeloproliferative Neoplasms Using Targeted Exon Resequencing of 86 Genes Involved in JAK-STAT Signaling and Epigenetic Regulation.利用涉及JAK-STAT信号传导和表观遗传调控的86个基因的靶向外显子重测序对骨髓增殖性肿瘤进行快速分子谱分析。
J Mol Diagn. 2016 Sep;18(5):707-718. doi: 10.1016/j.jmoldx.2016.05.006. Epub 2016 Jul 19.
10
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.