LoRusso Patricia M, Boerner Scott A, Pilat Mary Jo, Forman Karen M, Zuccaro Clarice Y, Kiefer Jeffrey A, Liang Winnie S, Hunsberger Sally, Redman Bruce G, Markovic Svetomir N, Sekulic Aleksandar, Bryce Alan H, Joseph Richard W, Cowey C Lance, Fecher Leslie Anne, Sosman Jeffrey Alan, Chapman Paul B, Schwartz Gary K, Craig David W, Carpten John D, Trent Jeffrey M
Yale Cancer Center, New Haven, Connecticut. Barbara Ann Karmanos Cancer Institute, Wayne State University, Detroit, Michigan.
Barbara Ann Karmanos Cancer Institute, Wayne State University, Detroit, Michigan.
Mol Cancer Ther. 2015 Aug;14(8):1962-71. doi: 10.1158/1535-7163.MCT-15-0153. Epub 2015 Jun 10.
Targeted therapies and immunotherapies have led to significant improvements in the treatment of advanced cancers, including metastatic melanoma. However, new strategies are desperately needed to overcome therapeutic resistance to these agents, as well as to identify effective treatment approaches for cancer patients that fall outside major targetable mutational subtypes (e.g., non-V600 BRAF melanoma). One such strategy is to extend the paradigm of individually tailored, molecularly targeted therapy into a broader spectrum of melanoma patients, particularly those bearing tumors without commonly recognized therapeutic targets, as well as having failed or were ineligible for immunotherapy. In this nontreatment pilot study, next-generation sequencing (NGS) technologies were utilized, including whole genome and whole transcriptome sequencing, to identify molecular aberrations in patients with non-V600 BRAF metastatic melanoma. This information was then rationally matched to an appropriate clinical treatment from a defined pharmacopeia. Five patients with advanced non-V600 BRAF metastatic melanoma were enrolled. We demonstrated successful performance of the following during a clinically relevant time period: patient tumor biopsy, quality DNA/RNA extraction, DNA/RNA-based sequencing for gene expression analysis, analysis utilizing a series of data integration methodologies, report generation, and tumor board review with formulated treatment plan. Streamlining measures were conducted based on the experiences of enrolling, collecting specimens, and analyzing the molecular signatures of patients. We demonstrated the feasibility of using NGS to identify molecular aberrations and generate an individualized treatment plan in this patient population. A randomized treatment study utilizing lessons learned from the conduct of this pilot study is currently underway.
靶向治疗和免疫治疗已使包括转移性黑色素瘤在内的晚期癌症治疗取得显著进展。然而,迫切需要新策略来克服对这些药物的治疗抗性,并为不属于主要可靶向突变亚型(例如非V600 BRAF黑色素瘤)的癌症患者确定有效的治疗方法。一种这样的策略是将个体化定制的分子靶向治疗模式扩展到更广泛的黑色素瘤患者群体,特别是那些肿瘤没有常见公认治疗靶点、免疫治疗失败或不符合免疫治疗条件的患者。在这项非治疗性试点研究中,利用了下一代测序(NGS)技术,包括全基因组和全转录组测序,以识别非V600 BRAF转移性黑色素瘤患者的分子畸变。然后将这些信息合理匹配到既定药典中的适当临床治疗方案。招募了5例晚期非V600 BRAF转移性黑色素瘤患者。我们在临床相关时间段内展示了以下方面的成功实施:患者肿瘤活检、高质量DNA/RNA提取、基于DNA/RNA的基因表达分析测序、利用一系列数据整合方法进行分析、报告生成以及肿瘤专家委员会对制定的治疗计划进行审查。基于招募、收集标本和分析患者分子特征的经验采取了简化措施。我们证明了在该患者群体中使用NGS识别分子畸变并生成个体化治疗计划的可行性。目前正在进行一项利用从该试点研究中吸取的经验教训的随机治疗研究。