关于在巴西实施高级肺腺癌基因组测试的真实世界研究
Rodrigo Dienstmann1,2, Leonard M da Silva1, Fernanda Orpinelli Ramos do Rego1
1Oncoclínicas & CO-Medica Scientia Innovation Research (MedSir), São Paulo, Brazil.
JCO global oncology
|November 21, 2024
概括
这项在巴西的研究强调了肺癌生物标志物测试的挑战. 结合快速跟踪和下一代测序方法发现了频繁的EGFR,KRAS和ALK变异,但组织不足限制了许多患者的综合分析.
科学领域:
- 在瘤学瘤学.
- 分子诊断学 分子诊断
- 基因组学就是基因组学.
背景情况:
- 肺癌生物标志物测试对于有针对性的治疗选择至关重要.
- 组织不足和操作问题可能会阻碍全面的分子分析.
- 精准医学计划旨在优化诊断工作流程.
研究的目的:
- 描述巴西针对肺癌的量身定制分子测试策略的实施情况.
- 将快速跟踪 (FT) 非下一代测序 (NGS) 分析与广泛的NGS面板结合起来.
- 评估这种综合方法的初始性能和收益率.
主要方法:
- 实施了一种工作流程,将FT测定 (PD-L1 IHC,ALK,EGFR,BRAF,ROS1) 与一个180基因定制DNA/RNA NGS面板 (ARCHER) 集成在一起.
- 从2021年至2023年评估了1272个非状肺癌样本.
- 对FT和NGS测试的评估样本合格率和分析成功率.
主要成果:
- 经常发生的改变包括KRAS突变 (28.4%),EGFR突变 (23.6%),ALK融合 (6.4%) 和MET外基因14跳转 (4.4%).
- 在35%的样本中,FT非NGS测试是唯一的分子诊断,检测出EGFR突变 (14%) 和ALK融合 (4.4%).
- 组织不足或质量问题影响了35%的样本,限制了广泛NGS的资格.
结论:
- 该研究提供了巴西肺腺癌分子流行病学数据.
- 很大一部分患者 (35%) 仅符合非NGS测试的条件,这表明诊断覆盖率降低.
- 生物标本的质量和加工是影响肺癌综合生物标志物检测的关键因素.
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