Division of Hematology and Medical Oncology, Mayo Clinic, Phoenix, AZ, USA.
University of Kentucky College of Medicine, Lexington, KY, USA.
BMC Cancer. 2017 Aug 30;17(1):602. doi: 10.1186/s12885-017-3587-8.
Describe a single-center real-world experience with comprehensive genomic profiling (CGP) to identify genotype directed therapy (GDT) options for patients with malignancies refractory to standard treatment options.
Patients who had CGP by a CLIA-certified laboratory between November 2012 and December 2015 were included. The medical records were analyzed retrospectively after Institutional Review Board (IRB) approval. The treating oncologist made the decision to obtain the assay to provide potential therapeutic options. The objectives of this study were to determine the proportion of patients who benefited from GDT, and to identify barriers to receiving GDT.
A total of 125 pediatric and adult patients with a histologically confirmed diagnosis of malignancy were included. Among these, 106 samples were from adult patients, and 19 samples were from pediatric patients. The median age was 54 years for adults. The majority had stage IV malignancy (53%) and were pretreated with 2-3 lines of therapy (45%). The median age was 8 years for pediatric patients. The majority had brain tumors (47%) and had received none or 1 line of therapy (58%) when the profiling was requested. A total of 111 (92%) patients had genomic alterations and were candidates for GDT either via on/off-label use or a clinical trial (phase 1 through 3). Fifteen patients (12%) received GDT based on these results including two patients who were referred for genomically matched phase 1 clinical trials. Three patients (2%) derived benefit from their GDT that ranged from 2 to 6 months of stable disease.
CGP revealed potential treatment options in the majority of patients profiled. However, multiple barriers to therapy were identified, and only a small minority of the patients derived benefit from GDT.
描述了一项单中心真实世界的经验，即通过综合基因组分析（CGP）来确定对标准治疗方案无效的恶性肿瘤患者的基因型指导治疗（GDT）方案。
纳入了 2012 年 11 月至 2015 年 12 月期间在 CLIA 认证实验室进行 CGP 的患者。在获得机构审查委员会（IRB）批准后，对病历进行回顾性分析。治疗肿瘤学家决定获取该检测，以提供潜在的治疗选择。本研究的目的是确定受益于 GDT 的患者比例，并确定接受 GDT 的障碍。
共纳入了 125 名经组织学证实患有恶性肿瘤的儿科和成年患者。其中，106 例来自成年患者，19 例来自儿科患者。成年患者的中位年龄为 54 岁。大多数患者处于 IV 期恶性肿瘤（53%），并接受了 2-3 线治疗（45%）。儿科患者的中位年龄为 8 岁。大多数患者患有脑肿瘤（47%），在请求进行基因谱分析时，未接受过治疗或仅接受过 1 线治疗（58%）。共有 111 名（92%）患者有基因组改变，并且是通过 off-label 或临床试验（1 期至 3 期）接受 GDT 的候选者。基于这些结果，有 15 名患者（12%）接受了 GDT，其中包括两名被推荐参加基因匹配的 1 期临床试验的患者。有 3 名患者（2%）从 GDT 中获益，病情稳定时间为 2 至 6 个月。
CGP 显示了大多数患者的潜在治疗选择。然而，发现了多种治疗障碍，只有少数患者从 GDT 中获益。
