Michigan Center for Translational Pathology, Ann Arbor, MI 48109, USA.
Sci Transl Med. 2011 Nov 30;3(111):111ra121. doi: 10.1126/scitranslmed.3003161.
Individual cancers harbor a set of genetic aberrations that can be informative for identifying rational therapies currently available or in clinical trials. We implemented a pilot study to explore the practical challenges of applying high-throughput sequencing in clinical oncology. We enrolled patients with advanced or refractory cancer who were eligible for clinical trials. For each patient, we performed whole-genome sequencing of the tumor, targeted whole-exome sequencing of tumor and normal DNA, and transcriptome sequencing (RNA-Seq) of the tumor to identify potentially informative mutations in a clinically relevant time frame of 3 to 4 weeks. With this approach, we detected several classes of cancer mutations including structural rearrangements, copy number alterations, point mutations, and gene expression alterations. A multidisciplinary Sequencing Tumor Board (STB) deliberated on the clinical interpretation of the sequencing results obtained. We tested our sequencing strategy on human prostate cancer xenografts. Next, we enrolled two patients into the clinical protocol and were able to review the results at our STB within 24 days of biopsy. The first patient had metastatic colorectal cancer in which we identified somatic point mutations in NRAS, TP53, AURKA, FAS, and MYH11, plus amplification and overexpression of cyclin-dependent kinase 8 (CDK8). The second patient had malignant melanoma, in which we identified a somatic point mutation in HRAS and a structural rearrangement affecting CDKN2C. The STB identified the CDK8 amplification and Ras mutation as providing a rationale for clinical trials with CDK inhibitors or MEK (mitogen-activated or extracellular signal-regulated protein kinase kinase) and PI3K (phosphatidylinositol 3-kinase) inhibitors, respectively. Integrative high-throughput sequencing of patients with advanced cancer generates a comprehensive, individual mutational landscape to facilitate biomarker-driven clinical trials in oncology.
个体癌症携带有一组遗传异常,这些异常可用于鉴定目前可用或正在临床试验中的合理治疗方法。我们实施了一项试点研究,以探索在临床肿瘤学中应用高通量测序的实际挑战。我们招募了符合临床试验条件的晚期或难治性癌症患者。对于每个患者,我们对肿瘤进行全基因组测序、肿瘤和正常 DNA 的靶向全外显子组测序以及肿瘤的转录组测序(RNA-Seq),以在 3 到 4 周的临床相关时间框架内确定潜在的信息性突变。通过这种方法,我们检测到了几类癌症突变,包括结构重排、拷贝数改变、点突变和基因表达改变。一个多学科测序肿瘤委员会(STB)审议了测序结果的临床解释。我们在人前列腺癌异种移植模型中测试了我们的测序策略。接下来,我们按照临床方案招募了两名患者,并能够在活检后 24 天内在我们的 STB 上审查结果。第一位患者患有转移性结直肠癌,我们在其中鉴定出 NRAS、TP53、AURKA、FAS 和 MYH11 的体细胞点突变,以及细胞周期蛋白依赖性激酶 8(CDK8)的扩增和过表达。第二位患者患有恶性黑色素瘤,我们在其中鉴定出 HRAS 的体细胞点突变和影响 CDKN2C 的结构重排。STB 将 CDK8 扩增和 Ras 突变鉴定为提供了临床试验的依据,分别使用 CDK 抑制剂或 MEK(有丝分裂原激活或细胞外信号调节蛋白激酶激酶)和 PI3K(磷酸肌醇 3-激酶)抑制剂。晚期癌症患者的高通量测序整合可生成全面的个体突变景观,以促进肿瘤学中的生物标志物驱动的临床试验。
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