Department of Medical Oncology, IRCCS Istituto Romagnolo per lo Studio dei Tumori (IRST) "Dino Amadori", Via P. Maroncelli 40, 47014 Meldola, Italy.
Biosciences Laboratory, IRCCS Istituto Romagnolo per lo Studio dei Tumori (IRST) "Dino Amadori", Via P. Maroncelli 40, 47014 Meldola, Italy.
Int J Mol Sci. 2024 Oct 15;25(20):11071. doi: 10.3390/ijms252011071.
The efficacy and cost-effectiveness of Multigene Panel Next-Generation Sequencing (NGS) in directing patients towards genomically matched therapies remain uncertain. This study investigated metastatic colorectal cancer (mCRC) patients who underwent NGS analysis on formalin-fixed paraffin-embedded tumor samples. Data from 179 patients were analyzed, revealing no mutations in 39 patients (21.8%), one mutation in 83 patients (46.4%), and two or more mutations in 57 patients (31.8%). mutations were found in 87 patients (48.6%), including G12C mutations in 5 patients (2.8%), mutations in 40 patients (22.4%), and mutations in 26 patients (14.5%). Less common mutations were identified: in five patients (2.8%) and in four patients (2.2%). Additionally, , , and were mutated in three patients (2.4%). Two mutations (1.1%) were observed in , , , , and . No significant survival differences were observed based on number of mutations. In total, 40% of patients had druggable molecular alterations, but only 1.1% received genomically guided treatment, suggesting limited application in standard practice. Despite this, expanded gene panel testing can identify actionable mutations, aiding personalized treatment strategies in metastatic CRC, although current eligibility for biomarker-guided trials remains limited.
多基因panel 下一代测序(NGS)在指导患者接受基因组匹配治疗方面的疗效和成本效益仍不确定。本研究调查了接受福尔马林固定石蜡包埋肿瘤样本 NGS 分析的转移性结直肠癌(mCRC)患者。对 179 名患者的数据进行了分析,结果显示 39 名患者(21.8%)无突变,83 名患者(46.4%)有 1 个突变,57 名患者(31.8%)有 2 个或更多突变。发现 87 名患者(48.6%)有突变,包括 5 名患者(2.8%)有 G12C 突变,40 名患者(22.4%)有 突变,26 名患者(14.5%)有 突变。还发现了较少见的突变:5 名患者(2.8%)有 突变,4 名患者(2.2%)有 突变。此外,3 名患者(2.4%)有 、 、 和 突变。在 、 、 、 和 中观察到 2 个突变(1.1%)。突变数量与生存无显著差异。总的来说,40%的患者有可用药理学改变,但只有 1.1%接受了基于基因组的治疗,这表明在标准实践中应用有限。尽管如此,扩展的基因panel 检测可以识别出可操作的突变,有助于转移性 CRC 的个体化治疗策略,尽管目前用于生物标志物指导试验的资格仍然有限。