Steeghs Elisabeth M P, Vink Geraldine R, Elferink Marloes A G, Voorham Quirinus J M, Gelderblom Hans, Nagtegaal Iris D, Grünberg Katrien, Ligtenberg Marjolijn J L
Pathology, Radboudumc, Nijmegen, The Netherlands.
Pathology, Antoni van Leeuwenhoek Hospital, the Netherlands Cancer Institute, Amsterdam, The Netherlands.
J Clin Pathol. 2021 Oct 21;75(10):706-11. doi: 10.1136/jclinpath-2021-207865.
For a nationwide real-word data study on the application of predictive mutation testing of patients with colorectal cancer (CRC) for anti-epidermal growth factor receptor (EGFR) therapy stratification, pathology data were collected from the Dutch Pathology Registry from October 2017 until June 2019 (N=4060) and linked with the Netherlands Cancer Registry. Mutation testing rates increased from 24% at diagnosis of stage IV disease to 60% after 20-23 months of follow-up (p<0.001). Application of anti-EGFR therapy in wild-type patients was mainly observed from the third treatment line onwards (65% vs 17% in first/second treatment line (p<0.001)). The national average mutation rate was 63.9%, being similar for next-generation sequencing (NGS)-based approaches and single gene tests (64.4% vs 61.2%, p=ns). NGS-based approaches detected more additional potential biomarkers, for example, amplifications (p<0.05). Therefore, single gene tests are suitable to stratify patients with mCRC for anti-EGFR therapy, but NGS is superior enabling upfront identification of therapy resistance or facilitate enrolment into clinical trials.
为了开展一项关于结直肠癌(CRC)患者预测性突变检测在抗表皮生长因子受体(EGFR)治疗分层中应用的全国性真实世界数据研究,从荷兰病理登记处收集了2017年10月至2019年6月的病理数据(N = 4060),并与荷兰癌症登记处进行了关联。突变检测率从IV期疾病诊断时的24%增加到随访20 - 23个月后的60%(p<0.001)。野生型患者中抗EGFR治疗的应用主要从三线治疗开始观察到(65%对比一线/二线治疗的17%(p<0.001))。全国平均突变率为63.9%,基于下一代测序(NGS)的方法和单基因检测的突变率相似(64.4%对比61.2%,p = 无显著差异)。基于NGS的方法检测到更多额外的潜在生物标志物,例如扩增(p<0.05)。因此,单基因检测适合用于mCRC患者抗EGFR治疗的分层,但NGS更具优势,能够提前识别治疗耐药性或促进患者进入临床试验。