Nacchio Mariantonia, Sgariglia Roberta, Gristina Valerio, Pisapia Pasquale, Pepe Francesco, De Luca Caterina, Migliatico Ilaria, Clery Eduardo, Greco Lorenza, Vigliar Elena, Bellevicine Claudio, Russo Antonio, Troncone Giancarlo, Malapelle Umberto
Department of Public Health, University of Naples Federico II, Naples, Italy.
Department of Surgical, Oncological and Oral Sciences, Section of Medical Oncology, University of Palermo, Palermo, Italy.
J Thorac Dis. 2020 Jul;12(7):3836-3843. doi: 10.21037/jtd.2020.01.19.
In advanced stage non-small cell lung cancer (NSCLC) patients, Kirsten Rat Sarcoma Viral Oncogene Homolog () testing may soon acquire a predictive significance to select patients for AMG510 treatment. Since tissue samples are not always available, liquid biopsy may represent a viable option for testing. Here, we review the last three years clinical practice performed on 194 plasma based liquid biopsies by next generation sequencing (NGS) SiRe panel. In particular, 36 (18.6%) mutated cases were identified, with an overall median allelic frequency of 5.0% (ranging between 0.2% and 46.8%). No concomitant mutations were observed in the other NSCLC clinical relevant genes included in the SiRe panel, such as epidermal growth factor receptor () and v-Raf murine sarcoma viral oncogene homolog B (BRAF). Exon 2 p.G12C was the most common detected mutation (13/36, 36.1%). In conclusion, our data update and confirm that SiRe NGS panel represents a robust analytical tool to assess mutational status on circulating tumor DNA. Further investigation is required to design more cost-effective diagnostic algorithms to harmonize clinical relevant biomarker testing on tissue and blood in advanced stage NSCLC clinical practice.
在晚期非小细胞肺癌(NSCLC)患者中, Kirsten大鼠肉瘤病毒癌基因同源物()检测可能很快会获得预测意义,以选择适合AMG510治疗的患者。由于组织样本并非总是可用,液体活检可能是进行检测的一个可行选择。在此,我们回顾了过去三年通过下一代测序(NGS)SiRe检测板对194例基于血浆的液体活检所开展的临床实践。特别是,共鉴定出36例(18.6%) 突变病例,总体等位基因频率中位数为5.0%(范围在0.2%至46.8%之间)。在SiRe检测板所包含的其他NSCLC临床相关基因中,如表皮生长因子受体()和v-Raf鼠肉瘤病毒癌基因同源物B(BRAF),未观察到伴随突变。外显子2 p.G12C是最常见的检测到的突变(13/36,36.1%)。总之,我们的数据更新并证实,SiRe NGS检测板是评估循环肿瘤DNA 突变状态的一种可靠分析工具。需要进一步研究来设计更具成本效益的诊断算法,以协调晚期NSCLC临床实践中组织和血液的临床相关生物标志物检测。