多基因面板下一代测序转移性结直肠癌在澳大利亚人口中的下一代测序
Udit Nindra1,2,3,4,5, Abhijit Pal1,3,4, Vivienne Lea6
1Department of Medical Oncology, Liverpool Hospital, Liverpool, New South Wales, Australia.
PloS one
|October 5, 2023
概括
下一代测序 (NGS) 在澳大利亚人口中发现了转移性结直肠癌 (CRC) 的基因组突变. 同时的TP53/RAS突变和高KRAS等位基因频率显著降低了患者的存活率.
科学领域:
- 在瘤学瘤学.
- 基因组学就是基因组学.
- 分子生物学分子生物学
背景情况:
- 下一代测序 (NGS) 对于在临床实践中识别可操作突变至关重要.
- 欧洲医学瘤学会 (ESMO) 的分子标临床可操作性尺度 (ESCAT) 分层突变.
- 同基因频率是已知的晚期癌症的预后因素.
研究的目的:
- 确定澳大利亚多元文化人口中转移性结直肠癌 (CRC) 的基因组突变.
- 研究这些突变对患者生存结果的影响.
主要方法:
- 在180个CRC组织样本上使用了50基因的NGS面板 (Oncomine Precision AssayTM).
- 在2021年6月至2022年3月期间,从六家悉尼医院收集了样本.
主要成果:
- 180个样本中有147个 (82%) 显示至少一个突变;68个 (38%) 显示多个突变.
- 关键的I级变种包括RAS野生型 (41%) 和BRAF V600E (15%).
- 同时发生的TP53和RAS突变显著降低了整体存活率 (6.1个月和21.1个月,p<0.01).
- 高KRAS等位基因频率 (>20%VAF) 也与整体存活率降低相关 (12.1与42.9个月,p=0.04).
结论:
- NGS小组可以识别具有可操作的基因组改变的患者,用于向治疗.
- 50个基因组显示出识别非1级突变的潜力,可能成为未来的标准临床实践.
相关概念视频
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