文章：

142例未经治疗的多发性骨髓瘤患者中进行临床导向变异筛查和拷贝数检测的Panel测序

Panel sequencing for clinically oriented variant screening and copy number detection in 142 untreated multiple myeloma patients

原文发布日期：2016-02-26

DOI: 10.1038/bcj.2016.1

类型: Original Article

开放获取: 是

英文摘要：

We employed a customized Multiple Myeloma (MM)-specific Mutation Panel (M3P) to screen a homogenous cohort of 142 untreated MM patients for relevant mutations in a selection of disease-specific genes. M3Pv2.0 includes 77 genes selected for being either actionable targets, potentially related to drug–response or part of known key pathways in MM biology. We identified mutations in potentially actionable genes in 49% of patients and provided prognostic evidence of STAT3 mutations. This panel may serve as a practical alternative to more comprehensive sequencing approaches, providing genomic information in a timely and cost-effective manner, thus allowing clinically oriented variant screening in MM.

摘要翻译： 

我们采用定制的多发性骨髓瘤（MM）特异性突变检测 panel（M3P），对一组同质性的 142 名未经治疗的 MM 患者进行了疾病相关基因的突变筛查。M3Pv2.0 包含 77 个基因，这些基因的选择基于其可作为治疗靶点、可能与药物反应相关，或是 MM 生物学中已知关键通路的组成部分。我们在 49% 的患者中发现了潜在可操作基因的突变，并提供了 STAT3 突变的预后证据。该 panel 可作为更全面测序方法的一种实用替代方案，以及时且经济高效的方式提供基因组信息，从而实现在 MM 中进行临床导向的变异筛查。

原文链接：

Panel sequencing for clinically oriented variant screening and copy number detection in 142 untreated multiple myeloma patients