【佳学基因检测】MPNST (GeM) 联盟的基因组学：NF1 相关和散发性 MPNST 多组学表征的基本原理和研究设计

基因突变怎么治疗秘决

课题调研基因检测机构自我培训教材《肿瘤突变基因检测与个性化治疗方案的制定》《Genes (Basel)》在. 2020 Apr 2;11(4):387.发表了一篇题目为《MPNST (GeM) 联盟的基因组学：NF1 相关和散发性 MPNST 多组学表征的基本原理和研究设计》肿瘤靶向药物治疗基因检测临床研究文章。该研究由David T Miller, Isidro Cortés-Ciriano, Nischalan Pillay, Angela C Hirbe, Matija Snuderl, Marilyn M Bui, Katherine Piculell, Alyaa Al-Ibraheemi, Brendan C Dickson, Jesse Hart, Kevin Jones, Justin T Jordan, Raymond H Kim, Daniel Lindsay, Yoshihiro Nishida, Nicole J Ullrich, Xia Wang, Peter J Park, Adrienne M Flanagan等完成。促进了肿瘤的精准治疗与个性化用药的发展，进一步强调了基因信息检测与分析的重要性。

肿瘤靶向药物及精准治疗临床研究内容关键词：

MPNST,临床遗传学,基因组学,神经纤维瘤病,下一代测序,病理,肿瘤进化

肿瘤靶向治疗基因检测临床应用结果

恶性外周神经鞘瘤基因组学 (GeM) 联盟是一个国际合作组织，专注于恶性外周神经鞘瘤 (MPNSTs) 的多组学分析，MPNSTs 是与 1 型神经纤维瘤病 (NF1) 相关的最具侵袭性的肿瘤。在这里，基因解码基因检测总结了当前的知识差距，描述了基因解码基因检测的联盟和基因解码基因检测组建的队列，并概述了基因解码基因检测对这些肿瘤进行多组学分析的计划。基因解码基因检测建议基因解码基因检测的分析将导致更好地理解与 MPNST 启动和进展相关的遗传事件的顺序和时间。基因解码基因检测的十个机构收集了来自 86 名受试者的 96 份新鲜冷冻 NF1 相关 (63%) 和散发的 MPNST 标本，并具有相应的临床和病理数据。临床数据已作为国际 MPNST 登记的一部分收集。基因解码基因检测将通过批量全基因组测序、RNAseq 和 DNA 甲基化分析来表征这些肿瘤。此外，基因解码基因检测将使用相同的基因解码基因检测的研究方法对 9 名患有 NF1 相关 MPNST 的受试者的子集进行多区域分析和时间采样，以评估肿瘤异质性和癌症演变。随后对其他档案标本的多组学分析将包括深度外显子组测序（500×）和高密度拷贝数阵列，用于验证基于新鲜冷冻肿瘤的基因解码基因检测的研究结果，并评估进一步的肿瘤异质性和进化。数字病理图像正在基于云的平台中收集，以进行共识审查。这些努力的基因解码基因检测的研究结果将是有史以来最大的具有相关临床和病理信息的 MPNST 多组学数据集。临床遗传学；基因组学；神经纤维瘤病;下一代测序；病理;肿瘤进化。

肿瘤发生与复发转移国际数据库描述：

The Genomics of Malignant Peripheral Nerve Sheath Tumor (GeM) Consortium is an international collaboration focusing on multi-omic analysis of malignant peripheral nerve sheath tumors (MPNSTs), the most aggressive tumor associated with neurofibromatosis type 1 (NF1). Here we present a summary of current knowledge gaps, a description of our consortium and the cohort we have assembled, and an overview of our plans for multi-omic analysis of these tumors. We propose that our analysis will lead to a better understanding of the order and timing of genetic events related to MPNST initiation and progression. Our ten institutions have assembled 96 fresh frozen NF1-related (63%) and sporadic MPNST specimens from 86 subjects with corresponding clinical and pathological data. Clinical data have been collected as part of the International MPNST Registry. We will characterize these tumors with bulk whole genome sequencing, RNAseq, and DNA methylation profiling. In addition, we will perform multiregional analysis and temporal sampling, with the same methodologies, on a subset of nine subjects with NF1-related MPNSTs to assess tumor heterogeneity and cancer evolution. Subsequent multi-omic analyses of additional archival specimens will include deep exome sequencing (500×) and high density copy number arrays for both validation of results based on fresh frozen tumors, and to assess further tumor heterogeneity and evolution. Digital pathology images are being collected in a cloud-based platform for consensus review. The result of these efforts will be the largest MPNST multi-omic dataset with correlated clinical and pathological information ever assembled.Keywords: MPNST; clinical genetics; genomics; neurofibromatosis; next generation sequencing; pathology; tumor evolution.