扩展基因组分析（EGP）方案在将患者纳入基因匹配治疗方面的效率仍未知。选择肠直肠癌的适合病人进行EGP方案，通过形式固定的石蜡包埋肿瘤样本进行下一代测序（NGS）分析。旨在描述EGSMO分子靶向药物临床应用水平（ESCAT）定义的基因突变患病率，以及最后进入基因引导临床试验的患者百分比。总共招募了187名患者。177名患者获得了突变谱，而41名患者和31名患者则获得了拷贝数改变和融合。ESCAT定义的变异在拟分析人口中检测出来的比率为28.8％。BRAF V600E 在ESCAT I中聚集，其患病率为3.7％，KRAS G12C 和ERBB2扩增在ESCAT II中聚集，其患病率分别为4.2％和1.6％。大多数的变异被归类为ESCAT III（ERBB2、PIK3CA或FGFR基因的突变和MET扩增）和IV（非V600E BRAF的突变、ERBB3、FBXW7、NOTCH、RNF43的突变），单一患病率低于5％，唯独PIK3CA突变达9％。最终基因引导临床试验的纳入率为2.7％，包括针对BRAF V600E 或RNF43突变治疗的两名患者以及ERBB2突变的一名患者。总之，对于晚期CRC患者的EGP方案是可行的，并且可以识别出一部分具有潜在可治疗的基因突变患者。然而，必须付出进一步努力以增加接受基因引导治疗的患者比率。本文受版权保护。保留所有权利。

Efficiency of expanded genomic profiling (EGP) programmes in terms of final inclusion of patients in genomically matched therapies is still unknown. Fit patients with advanced and refractory colorectal cancer (CRC) were selected for an EGP programme. Next-generation sequencing (NGS) analysis from formalin-fixed paraffin-embedded tumour samples was performed. The purpose was to describe the prevalence of genomic alterations defined by the ESMO Scale for Clinical Actionability of Molecular Targets (ESCAT), as well as the percentage of patients finally included in genomically guided clinical trials. In total, 187 patients were recruited. Mutational profile was obtained in 177 patients (10 patients were failure due to insufficient tumour sample), copy number alterations in 41 patients and fusions in 31 patients. ESCAT-defined alterations were detected in 28.8% of the intention-to-analyse population. BRAF V600E was clustered in ESCAT I, with a prevalence of 3.7%, KRAS G12C and ERBB2 amplification were clustered in ESCAT II, whose prevalence was 4.2% and 1.6%, respectively. Most alterations were classified in ESCAT III (mutations in ERBB2, PIK3CA or FGFR genes and MET amplification) and IV (mutations in BRAF non-V600E, ERBB3, FBXW7, NOTCH, RNF43), with a single prevalence under 5%, except for PIK3CA mutation (9%).The final rate of inclusion into genomically guided clinical trials was 2.7%, including therapies targeting BRAF V600E or RNF43 mutations in two patients each, and ERBB2 mutation in one patient. In conclusion, EGP programmes in patients with advanced CRC are feasible and identify a subset of patients with potentially druggable genomic alterations. However, further efforts must be made to increase the rate of patients treated with genomically guided therapies.This article is protected by copyright. All rights reserved.