Cross-platform comparison of next-generation sequencing and matrix-assisted laser desorption/ionization time-of-flight mass spectrometry for detecting KRAS/NRAS/BRAF/PIK3CA mutations in cfDNA from metastatic colorectal cancer patients.
Cross-platform comparison of next-generation sequencing and matrix-assisted laser desorption/ionization time-of-flight mass spectrometry for detecting KRAS/NRAS/BRAF/PIK3CA mutations in cfDNA from metastatic colorectal cancer patients.
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新一代测序和基质辅助激光解吸/电离飞行时间质谱检测转移性结直肠癌患者 cfDNA 中 KRAS/NRAS/BRAF/PIK3CA 突变的跨平台比较
DOI：
10.1002/jcla.23818
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发表时间：
2021-09
影响因子：
2.7
通讯作者：
Guo W
中科院分区：
文献类型：
--
作者：
Xu X;Huang F;Cao M;Chen X;Wang H;Jiang H;Yu Y;Shen M;Yang Y;Wang B;Liu T;Guo W
Examining tumor KRAS/NRAS/BRAF/PIK3CA status in metastatic colorectal cancer (mCRC) is essential for treatment selection and prognosis evaluation. Cell‐free DNA (cfDNA) in plasma is a feasible source for tumor gene analysis. In this study, we recruited mCRC patients and analyzed their KRAS/NRAS/BRAF/PIK3CA status in cfDNA using two platforms, next‐generation sequencing (NGS) and matrix‐assisted laser desorption/ionization time‐of‐flight mass spectrometry (MALDI‐TOF). The performance between the two platforms and the concordance rate between cfDNA and tissue were analyzed. The relationship between cfDNA‐related variables and clinical variables was also assessed. Tumor mutations in cfDNA from patients receiving continuous treatments were monitored in the follow‐ups. Next‐generation sequencing and MALDI‐TOF had similar specificity (100.0% vs. 99.3%) and negative predictive value (99.9% vs. 99.4%), whereas NGS had higher sensitivity (97.1% vs. 85.3% of MALDI‐TOF) and positive predictive value (100% vs. 82.9% of MALDI‐TOF). The overall concordance rate of NGS and MALDI‐TOF was 98.6%. For the reportable types of mutations in both cfDNA and tissue, the concordance rate was 96.1%. Among 28 tissue‐positive patients, the allele frequencies of tumor mutations in cfDNA were higher in patients with primary tumor burden (p = 0.0141). Both CEA and CA 19‐9 were positively correlated with cfDNA concentration (r = 0.3278 and r = 0.3992). The allele frequencies of tumor mutations changed with disease progression. Next‐generation sequencing showed slightly better performance in detecting cfDNA mutations and was more suitable for clinical practice. cfDNA‐related variables reflected the tumor status and showed a promising potential in monitoring disease progression. Nowadays, liquid biopsy using plasma cell‐free DNA (cfDNA) is a crucial tool in cancer management. But it is still confusing which platform should be used as well as how to use cfDNA. In this study, we conducted a prospective study to compare two broad‐coverage profiling platforms, next‐generation sequencing (NGS) and matrix‐assisted laser desorption/ionization time‐of‐flight mass spectrometry (MALDI‐TOF), on cfDNA analysis and explore the potential use of cfDNA in metastatic colorectal cancer (mCRC). Our results revealed the advantages of NGS assay over MALDI‐TOF assay and indicated how to improve MALDI‐TOF assay. Moreover, our results suggested the potential value of cfDNA analysis in monitoring treatment response in mCRC.
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影响因子：
2.7
作者：
Shi L;Tao C;Tang Y;Xia Y;Li X;Wang X
通讯作者：
Wang X
影响因子：
28.4
作者：
Cremolini, Chiara;Rossini, Daniele;Santini, Daniele
通讯作者：
Santini, Daniele
影响因子：
64.8
作者：
Misale, Sandra;Yaeger, Rona;Hobor, Sebastijan;Scala, Elisa;Janakiraman, Manickam;Liska, David;Valtorta, Emanuele;Schiavo, Roberta;Buscarino, Michela;Siravegna, Giulia;Bencardino, Katia;Cercek, Andrea;Chen, Chin-Tung;Veronese, Silvio;Zanon, Carlo;Sartore-Bianchi, Andrea;Gambacorta, Marcello;Gallicchio, Margherita;Vakiani, Efsevia;Boscaro, Valentina;Medico, Enzo;Weiser, Martin;Siena, Salvatore;Di Nicolantonio, Federica;Solit, David;Bardelli, Alberto
通讯作者：
Bardelli, Alberto
影响因子：
4.6
作者：
Guo F;Gong H;Zhao H;Chen J;Zhang Y;Zhang L;Shi X;Zhang A;Jin H;Zhang J;He Y
通讯作者：
He Y
用于评估转移性结直肠癌患者循环肿瘤 DNA 的新型基于扩增子的 NGS 测定的分析和临床验证
影响因子：
6.8
作者：
Wang, Beili;Wu, Shengchao;Guo, Wei
通讯作者：
Guo, Wei