Molecular Profiling of Clinical Specimens

临床分子分析核心（CMPC）是一个协作核心，旨在超越其他实验室核心的共同服务模式。其人员的专业知识允许从项目开始参与，例如方案制定，直到检测和生物统计分析的执行。目前，我们的主要职能是支持国家癌症研究所（NCI）的临床试验，为此，我们与癌症研究中心（CCR/NCI）的许多分支机构和NCI的姐妹中心合作。这些合作的状态范围从初步讨论到方案制定、累积和分析，以及完成到出版;对于那些已经完成的合作，我们期待参与后续研究。许多研究都是临床试验，测试或鉴定早期临床试验的药物。这些研究包括：“CaboNivo或CaboNivoIp在转移性尿路上皮癌和泌尿生殖系统癌中的1期研究”以及与NCI/CCR GIST诊所的相互作用。在过去，我们支持了“晚期胸部恶性肿瘤的分子谱分析和靶向治疗：生物标志物衍生的多臂多组织学II期篮试验”和“弥漫性内在脑桥胶质瘤中功能定义的治疗靶点”的试验，最近Shukla等人，使用诱导多能干细胞模型识别肺癌治疗的新靶点，2018。然而，其他研究更侧重于了解特定疾病的潜在病理学，而不是直接测试疗法。这些研究包括Oltmann等人的出版物，MYC的非整倍性、TP 53突变和扩增与乳腺癌患者肿瘤内异质性增加和预后不良相关，Hirsh等人，克罗恩病相关结直肠癌发生中基因组改变的动力学值得注意的是，在我们的CLIA [临床实验室改进修正案]实验室中，已投入资源使用Illumina下一代测序实现临床外显子组和多基因组高深度测序。为了支持这些研究，CMPC拥有许多分子技术的专业知识，用于分析人类样本的DNA和RNA。CMPC中使用的其他现有技术测定是广泛的先进平台，包括：RNA-seq、mRNA表达分析（微阵列、实时PCR、基于珠粒的）、表观基因组甲基化（微阵列）、阵列比较基因组杂交（微阵列）和端粒长度测定。重要的是，CMPC为所有这些检测提供全面的生物信息学支持。

The Clinical Molecular Profiling Core (CMPC) is a collaborative core that seeks to go beyond the common service paradigm of other laboratory cores. The expertise of its personnel allows involvement from the start of a project, such as the protocol development, through performance of the assay and biostatistical analyses. Currently, our main function is to support clinical trials at the National Cancer Institute (NCI) and to that end we have collaborations with many of the branches in the Center for Cancer Research (CCR/NCI) and sister centers in the NCI. The status of these collaborations range from preliminary discussions through protocol development, accrual and analysis, and completion to publication; for those that are completed, we look forward to being involved in follow up studies. Many of the studies are clinical trials testing or identifying drugs for early phase clinical trials. These include studies such as: "Phase 1 study of CaboNivo or CaboNivoIp in Metastatic Urothelial and Genitourinary Cancer" and interactions with the NCI/CCR GIST Clinic. In the past we have supported "Molecular profiling and targeted therapy for advanced thoracic malignancies: a biomarker-derived, multiarm, multihistology phase II basket trial" and a trial in "Functionally defined therapeutic targets in diffuse intrinsic pontine glioma" and recently Shukla et al., Identification of Novel Targets for Lung Cancer Therapy Using an Induced Pluripotent Stem Cell Model, 2018. However, other investigations are more focused on understanding the underlying pathology of specific diseases and are not directly testing a therapy. These studies included publications by Oltmann et al., Aneuploidy, TP53 mutation, and amplification of MYC correlate with increased intratumor heterogeneity and poor prognosis of breast cancer patients and Hirsh, et al., Dynamics of genome alterations in Crohn's disease associated colorectal carcinogenesis. Significantly, resources have been devoted to actualizing clinical exome and multi-gene panel hi-depth sequencing using Illumina next-generation sequencing in the context of our CLIA [Clinical Laboratory Improvement Amendments] laboratory. To support these studies, the CMPC has expertise in many molecular technologies for the analysis of DNA and RNA from human specimens. Other state of the art assays utilized in the CMPC are a wide range of advanced platforms that include: RNA-seq, mRNA expression analysis (microarray, real-time PCR, bead-based), epigenomic methylation (microarray), array comparative genomic hybridization (microarray), and telomere length assays. Importantly, the CMPC provides full bioinformatics support for all these assays.