Center for Cancer Genomics, Dana-Farber Cancer Institute, Boston, Massachusetts; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts.
Laboratory of Cellular Oncology, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, Maryland.
J Mol Diagn. 2020 Apr;22(4):476-487. doi: 10.1016/j.jmoldx.2019.12.010. Epub 2020 Feb 15.
Precision cancer medicine aims to classify tumors by site, histology, and molecular testing to determine an individualized profile of cancer alterations. Viruses are a major contributor to oncogenesis, causing 12% to 20% of all human cancers. Several viruses are causal of specific types of cancer, promoting dysregulation of signaling pathways and resulting in carcinogenesis. In addition, integration of viral DNA into the host (human) genome is a hallmark of some viral species. Tests for the presence of viral infection used in the clinical setting most often use quantitative PCR or immunohistochemical staining. Both approaches have limitations and need to be interpreted/scored appropriately. In some cases, results are not binary (virus present/absent), and it is unclear what to do with a weakly or partially positive result. In addition, viral testing of cancers is performed separately from tests to detect human genomic alterations and can thus be time-consuming and use limited valuable specimen. We present a hybrid-capture and massively parallel sequencing approach to detect viral infection that is integrated with targeted genomic analysis to provide a more complete tumor profile from a single sample.
精准癌症医学旨在通过对肿瘤进行分类,包括组织学和分子检测,以确定癌症变化的个体化特征。病毒是致癌的主要因素,导致 12%至 20%的所有人类癌症。一些病毒会导致特定类型的癌症,促进信号通路的失调,从而导致癌变。此外,病毒 DNA 整合到宿主(人类)基因组中是某些病毒的标志。临床环境中用于检测病毒感染的检测方法最常使用定量 PCR 或免疫组织化学染色。这两种方法都有局限性,需要进行适当的解释/评分。在某些情况下,结果不是二进制的(病毒存在/不存在),而且对于弱阳性或部分阳性结果,尚不清楚该如何处理。此外,癌症的病毒检测与检测人类基因组改变的检测分开进行,因此可能耗时且会使用有限的宝贵标本。我们提出了一种混合捕获和大规模平行测序方法来检测病毒感染,该方法与靶向基因组分析相结合,可从单个样本中提供更完整的肿瘤特征。