Mutational screening of newly diagnosed multiple myeloma patients by deep targeted sequencing.
作者信息
Ruiz-Heredia Yanira, Sánchez-Vega Beatriz, Onecha Esther, Barrio Santiago, Alonso Rafael, Martínez-Ávila Jose Carlos, Cuenca Isabel, Agirre Xabier, Braggio Esteban, Hernández Miguel-T, Martínez Rafael, Rosiñol Laura, Gutierrez Norma, Martin-Ramos Marisa, Ocio Enrique M, Echeveste María-Asunción, de Oteyza Jaime Pérez, Oriol Albert, Bargay Joan, Gironella Mercedes, Ayala Rosa, Bladé Joan, Mateos María-Victoria, Kortum Klaus M, Stewart Keith, García-Sanz Ramón, Miguel Jesús San, Lahuerta Juan José, Martinez-Lopez Joaquín
机构信息
Department of Hematology, Hospital Universitario 12 de Octubre-Hematological Malignancies Clinical Research Unit H120-CNIO, Madrid, Spain.
Department of Internal Medicine II, University Hospital Würzburg, Germany.
出版信息
Haematologica. 2018 Nov;103(11):e544-e548. doi: 10.3324/haematol.2018.188839. Epub 2018 Jun 28.
Abstract
摘要
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本文引用的文献
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A DNA target-enrichment approach to detect mutations, copy number changes and immunoglobulin translocations in multiple myeloma.一种用于检测多发性骨髓瘤中突变、拷贝数变化和免疫球蛋白易位的DNA靶向富集方法。
Blood Cancer J. 2016 Sep 2;6(9):e467. doi: 10.1038/bcj.2016.72.
2
Targeted sequencing of refractory myeloma reveals a high incidence of mutations in CRBN and Ras pathway genes.难治性骨髓瘤的靶向测序显示CRBN和Ras信号通路基因的突变发生率很高。
Blood. 2016 Sep 1;128(9):1226-33. doi: 10.1182/blood-2016-02-698092. Epub 2016 Jul 25.
3
Panel sequencing for clinically oriented variant screening and copy number detection in 142 untreated multiple myeloma patients.对142例未经治疗的多发性骨髓瘤患者进行临床导向的变异筛查和拷贝数检测的基因panel测序。
Blood Cancer J. 2016 Feb 26;6(2):e397. doi: 10.1038/bcj.2016.1.
4
Sequential vs alternating administration of VMP and Rd in elderly patients with newly diagnosed MM.老年初诊 MM 患者中 VMP 与 Rd 序贯与交替给药的比较。
Blood. 2016 Jan 28;127(4):420-5. doi: 10.1182/blood-2015-08-666537. Epub 2015 Oct 23.
5
Mutational Spectrum, Copy Number Changes, and Outcome: Results of a Sequencing Study of Patients With Newly Diagnosed Myeloma.突变谱、拷贝数变化与预后：新诊断骨髓瘤患者测序研究结果
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6
Longitudinal analysis of 25 sequential sample-pairs using a custom multiple myeloma mutation sequencing panel (M(3)P).使用定制的多发性骨髓瘤突变测序面板（M(3)P）对25个连续样本对进行纵向分析。
Ann Hematol. 2015 Jul;94(7):1205-11. doi: 10.1007/s00277-015-2344-9. Epub 2015 Mar 7.
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Targeted sequencing using a 47 gene multiple myeloma mutation panel (M(3) P) in -17p high risk disease.采用 47 基因多发性骨髓瘤突变 panel（M(3) P）对高危-17p 疾病进行靶向测序。
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Identification of cereblon-binding proteins and relationship with response and survival after IMiDs in multiple myeloma.多发性骨髓瘤中cereblon结合蛋白的鉴定及其与免疫调节药物治疗反应和生存的关系。
Blood. 2014 Jul 24;124(4):536-45. doi: 10.1182/blood-2014-02-557819. Epub 2014 Jun 9.
9
Widespread genetic heterogeneity in multiple myeloma: implications for targeted therapy.多发性骨髓瘤的广泛遗传异质性：对靶向治疗的影响。
Cancer Cell. 2014 Jan 13;25(1):91-101. doi: 10.1016/j.ccr.2013.12.015.
10
Heterogeneity of genomic evolution and mutational profiles in multiple myeloma.多发性骨髓瘤中基因组进化和突变谱的异质性
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