PDF(Pubmed)
Abstract：
To inform clinical trial design and real-world precision pediatric oncology practice, we classified diagnoses, assessed the landscape of mutations, and identified genomic variants matching trials in a large unselected institutional cohort of solid tumors patients sequenced at Dana-Farber / Boston Children\'s Cancer and Blood Disorders Center. Tumors were sequenced with OncoPanel, a targeted next-generation DNA sequencing panel. Diagnoses were classified according to the International Classification of Diseases for Oncology (ICD-O-3.2). Over 6.5 years, 888 pediatric cancer patients with 95 distinct diagnoses had successful tumor sequencing. Overall, 33% (n = 289/888) of patients had at least 1 variant matching a precision oncology trial protocol, and 14% (41/289) were treated with molecularly targeted therapy. This study highlights opportunities to use genomic data from hospital-based sequencing performed either for research or clinical care to inform ongoing and future precision oncology clinical trials. Furthermore, the study results emphasize the importance of data sharing to define the genomic landscape and targeted treatment opportunities for the large group of rare pediatric cancers we encounter in clinical practice.
摘要：
为临床试验设计和真实世界的精准儿科肿瘤学实践提供信息，我们对诊断进行分类，评估了突变的景观，并在Dana-Farber/波士顿儿童癌症和血液疾病中心测序的实体瘤患者的大型未选择机构队列中确定了基因组变异匹配试验。用OncoPanel对肿瘤进行测序，靶向的下一代DNA测序小组。根据国际肿瘤疾病分类(ICD-O-3.2)对诊断进行分类。超过6.5年,有95个不同诊断的888名儿科癌症患者成功进行了肿瘤测序。总的来说,33％（n=289/888）的患者至少有1个变异与精确肿瘤学试验方案相匹配，14%(41/289)接受分子靶向治疗。这项研究强调了使用来自医院测序的基因组数据进行研究或临床护理的机会，以告知正在进行和未来的精准肿瘤学临床试验。此外，研究结果强调了数据共享对于定义我们在临床实践中遇到的大量罕见儿科癌症的基因组格局和有针对性的治疗机会的重要性.
