Background: Early-phase clinical trials offer a unique opportunity for patients with cancer. These trials often mandate biopsies to collect tumor tissue for research purposes, requiring patients to undergo invasive procedures. Some trials mandate molecular prescreening, but the success of these analyses relies on the quality and quantity of the tested materials. Additionally, bioptic procedures may result in complications. Methods: We retrospectively examined the records of patients referred to the Early Drug Development (EDD) Unit of the European Institute of Oncology who underwent biopsies for research purposes between January 2014 and December 2022. Our objective was to assess the safety of biopsy procedures and adequacy of the samples for NGS testing. Results: In total, 355 out of 731 patients (48.6%) underwent protocol-mandated biopsies. The most frequent sites of biopsy were the liver, lymph nodes, skin, and breast. Histological diagnosis was achieved in 349 (98%) patients, and NGS testing was successfully conducted in 111/127 (88.4%) cases. Of the 16 unsuccessful NGS attempts, 9 were performed on liver tissue. Unsuccessful NGS testing was attributed to poor sample quality and/or quantity, and the success rate varied significantly based on the specific tests attempted. Complications occurred in a small proportion of patients (4.8%), and none were serious. Conclusions: The non-negligible failure rate of NGS testing highlights the crucial need for implementing specific guidelines and Standard Operating Procedures for samples intended for NGS. With the use of a risk-based biopsy framework to guide clinical decisions, procedure-related complications may be minimized.
背景：早期临床试验为癌症患者提供了独特的机会。这些试验通常要求进行活检以获取肿瘤组织用于研究目的，这需要患者接受侵入性操作。部分试验要求进行分子预筛选，但此类分析的成功与否取决于检测材料的质量与数量。此外，活检操作可能导致并发症。 方法：我们回顾性分析了2014年1月至2022年12月期间，在欧洲肿瘤研究所早期药物开发（EDD）中心接受研究性活检患者的病历记录。本研究旨在评估活检操作的安全性以及样本是否满足下一代测序（NGS）检测要求。 结果：在731例患者中，共有355例（48.6%）接受了方案要求的活检。最常见的活检部位为肝脏、淋巴结、皮肤和乳腺。349例（98%）患者获得组织学诊断，127例中111例（88.4%）成功完成NGS检测。在16例NGS检测失败的案例中，9例为肝组织样本。NGS检测失败归因于样本质量不佳和/或数量不足，且成功率因具体检测项目的不同而存在显著差异。少数患者（4.8%）出现并发症，均为轻微症状。 结论：NGS检测不可忽视的失败率凸显了制定针对NGS样本的专业指南和标准操作程序的迫切需求。通过采用基于风险的活检决策框架指导临床实践，可最大程度降低操作相关并发症的发生。
肿瘤(癌症)患者之家