Barrio Santiago, DáVia Matteo, Bruins Laura, Stühmer Thorsten, Steinbrunn Torsten, Bittrich Max, Einsele Hermann, Stewart Alexander Keith, Braggio Esteban, Kortüm Klaus Martin
Department of Internal Medicine II, University Hospital Würzburg, Würzburg, Germany.
Department of Hematology and Oncology, Mayo Clinic, Scottsdale, AZ, USA.
Methods Mol Biol. 2018;1792:117-128. doi: 10.1007/978-1-4939-7865-6_8.
Over the past 10 years next generation sequencing (NGS) approaches deciphered a large number of genomes from a wide variety of tumor types. However, despite most relevant findings, this technology has not yet been implemented into standard diagnostic workflows. Broad access to NGS technology is still limited, sequencing/analysis times exceed clinically relevant timeframes and despite huge cuts, costs remain significant. We proposed a custom-tailored gene panel, which focuses on a selected number of relevant genes and developed a clinically oriented NGS targeted sequencing approach for the molecular characterization of Multiple Myeloma (MM) tumors, allowing the description of the tumor genetic heterogeneity and its changes under selective pressure of antitumor therapy, in a more cost effective and faster turnaround timeframe.
在过去10年中，下一代测序（NGS）方法解析了大量来自各种肿瘤类型的基因组。然而，尽管有大多数相关发现，但这项技术尚未应用于标准诊断流程。NGS技术的广泛应用仍然有限，测序/分析时间超过了临床相关时间框架，并且尽管大幅削减，成本仍然很高。我们提出了一个定制的基因panel，其专注于选定数量的相关基因，并开发了一种面向临床的NGS靶向测序方法，用于多发性骨髓瘤（MM）肿瘤的分子特征分析，从而能够在更具成本效益和更短周转时间内描述肿瘤遗传异质性及其在抗肿瘤治疗选择性压力下的变化。
