Whole-Exome and Transcriptome Sequencing Data from Normal and FF Tumor Tissues from Male Patient with Cancer of Unknown Primary

Case Report: The study consisted of a comprehensive genomic and molecular analysis of the Whole Exome Sequencing (WES) and RNA sequencing (RNAseq) data of a cancer of unknown primary (CUP) patient, with a history of rapid progression on empirical chemotherapy. Our profiling approach identified a molecular target, characterized gene expression patterns, the tumor microenvironment composition, and analyzed the origin of the tumor. This led to a personalized treatment strategy, resulting in substantial radiological response across all metastatic sites and the predicted primary site of the tumor.

病例报告：本研究针对1例经经验性化疗后快速进展的原发灶不明癌（cancer of unknown primary, CUP）患者，对其全外显子组测序（Whole Exome Sequencing, WES）与RNA测序（RNA sequencing, RNAseq）数据开展了全面的基因组与分子分析。本研究的分析策略成功鉴定出分子靶点，明确了基因表达谱特征与肿瘤微环境组成，并对肿瘤起源进行了溯源。上述结果助力制定个性化治疗方案，最终使患者所有转移灶及预测的肿瘤原发灶均获得显著的影像学应答。