本文由小咖机器人翻译整理

期刊来源：Nat Med

原文链接：https://doi.org/10.1038/s41591-024-02848-4

摘要内容如下：

患有罕见、复发或难治性癌症的儿童通常面临有限的治疗选择，并且很少有能够实现个性化治疗建议的预测生物标志物。功能性精准医学（FPM）的实施将基因组图谱与患者来源的肿瘤细胞的药物敏感性测试（DST）相结合，有可能在标准护理用尽时确定治疗方案。这项前瞻性观察研究的目的是为患有复发性或难治性癌症的儿童患者生成FPM数据。主要目的是确定在临床可操作的时间框架内（<4周）将基于FPM的治疗建议实时返回给FPM肿瘤委员会（FPMTB）的可行性。第二个目标是评估参与研究的患者的临床结果。25例复发或难治性实体癌和血液癌患者入选；21名患者接受了DST，20名患者还完成了基因组分析。DST和Genomics的平均周转时间分别为10天和27天。对19名患者（76%）提出了治疗建议，其中14名患者接受了治疗干预。6名患者随后接受了FPM指导的治疗。在这些患者中，5名（83%）接受FPM指导治疗的患者的无进展生存期相对于之前的治疗改善了1.3倍以上，并且与8名未接受指导治疗的患者相比，无进展生存期和客观缓解率显著增加。我们的原理验证研究结果表明，FPM有可能对患有复发性或难治性癌症的儿童和青少年患者的临床护理产生积极影响，并保证在大型前瞻性研究中得到进一步验证。ClinicalTrials.gov注册：NCT03860376。

英文原文如下：

Abstracts

Children with rare, relapsed or refractory cancers often face limited treatment options, and few predictive biomarkers are available that can enable personalized treatment recommendations. The implementation of functional precision medicine (FPM), which combines genomic profiling with drug sensitivity testing (DST) of patient-derived tumor cells, has potential to identify treatment options when standard-of-care is exhausted. The goal of this prospective observational study was to generate FPM data for pediatric patients with relapsed or refractory cancer. The primary objective was to determine the feasibility of returning FPM-based treatment recommendations in real time to the FPM tumor board (FPMTB) within a clinically actionable timeframe (<4 weeks). The secondary objective was to assess clinical outcomes from patients enrolled in the study. Twenty-five patients with relapsed or refractory solid and hematological cancers were enrolled; 21 patients underwent DST and 20 also completed genomic profiling. Median turnaround times for DST and genomics were within 10 days and 27 days, respectively. Treatment recommendations were made for 19 patients (76%), of whom 14 received therapeutic interventions. Six patients received subsequent FPM-guided treatments. Among these patients, five (83%) experienced a greater than 1.3-fold improvement in progression-free survival associated with their FPM-guided therapy relative to their previous therapy, and demonstrated a significant increase in progression-free survival and objective response rate compared to those of eight non-guided patients. The findings from our proof-of-principle study illustrate the potential for FPM to positively impact clinical care for pediatric and adolescent patients with relapsed or refractory cancers and warrant further validation in large prospective studies. ClinicalTrials.gov registration: NCT03860376 .

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