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首页> 外文期刊>Progress in Artificial Intelligence >Gene mutation profiling in Chinese colorectal cancer patients and its association with clinicopathological characteristics and prognosis
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Gene mutation profiling in Chinese colorectal cancer patients and its association with clinicopathological characteristics and prognosis

机译：中国结肠直肠癌患者的基因突变分析及其与临床病理特征及预后的关系

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Background Gene mutations may play an important role in the development, response to treatment and prognosis of colorectal cancer (CRC). This retrospective study aimed to investigate the mutation profiling of Chinese patients with CRC, and its correlation with clinicopathological features and prognosis. Methods This study included 1190 Chinese CRC patients who were diagnosed between May 1998 and December 2018 and received clinical genetic testing. The OncoCarta Panel was used to test a total of 238 possible mutations in 19 common oncogenes. Results Five hundred and eighty-two (48.9%) cases were detected with gene mutations. Of the 582 cases, there were 111 cases (19.7%) with two concurrent mutations, and six cases (1.0%) with three concurrent mutations. KRAS was the most common gene mutation that occurred in all cases (429, 36.1%), followed by PIK3CA (121, 10.2%), NRAS (47, 3.9%), BRAF (35, 2.9%), HRAS (11, 0.9%) and epidermal growth factor receptor (EGFR) (11, 0.9%). AKT1, KIT, FGFR1, FGFR3, FLT3, CDK, ERBB2, ABL1, MET, RET and PDGFRA mutations were also detected in several cases. When it came to prognosis, we found that KRAS/NRAS/PIK3CA/BRAF mutation was not associated with prognosis. But BRAF mutation was associated with poor prognosis in patients who accepted anti-EGFR therapy. Conclusions The molecular testing offered the clinical data and mutation profile of Chinese CRC patients. The information of these mutated genes may help to find out the correlation between mutated genes and the development or prognosis of CRC.
机译：背景技术基因突变可能在显影中发挥重要作用，对结直肠癌（CRC）的治疗和预后。这种回顾性研究旨在调查中国CRC患者的突变分析及其与临床病理特征和预后的相关性。方法本研究包括在1998年5月至2018年12月诊断的1190名中国CRC患者，并接受临床遗传检测。癌毛胃面板用于在19个常见的癌症中进行总共238种可能的突变。结果用基因突变检测5.8秒（48.9％）病例。在582例患者中，有111例（19.7％），两种同时突变，6例（1.0％），具有三种并发突变。 KRAS是所有病例中发生的最常见的基因突变（429,36.1％），其次是PIK3CA（121,10.2％），NRAS（47,3.9％），BRAF（35,2.9％），HRAS（11,0.9 ％）和表皮生长因子受体（EGFR）（11,0.9％）。在几种情况下，还检测到AKT1，试剂盒，FGFR1，FGFR3，FLT3，CDK，ERBB2，ABL1，MET，RET和PDGFRA突变。当它表明预后，我们发现KRAS / NRAS / PIK3CA / BRAF突变与预后无关。但BRAF突变与接受抗EGFR治疗的患者的预后不良有关。结论分子检测提供了中国CRC患者的临床数据和突变谱。这些突变基因的信息可以有助于发现突变基因与CRC的发育或预后之间的相关性。

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