Mao Chen, Wu Xin-Yin, Yang Zu-Yao, Threapleton Diane Erin, Yuan Jin-Qiu, Yu Yuan-Yuan, Tang Jin-Ling
1] Division of Epidemiology, The Jockey Club School of Public Health and Primary Care, The Chinese University of Hong Kong, Hong Kong [2] The Hong Kong Branch of The Chinese Cochrane Centre, The Chinese University of Hong Kong, Hong Kong [3] Shenzhen Municipal Key Laboratory for Health Risk Analysis, Shenzhen Research Institute of The Chinese University of Hong Kong, Shenzhen, Guangdong Province, China.
Division of Epidemiology, The Jockey Club School of Public Health and Primary Care, The Chinese University of Hong Kong, Hong Kong.
Sci Rep. 2015 Feb 2;5:8065. doi: 10.1038/srep08065.
Current data on the concordance of KRAS, BRAF, PIK3CA mutation status or PTEN expression status between primary tumors and metastases in colorectal cancer (CRC) are conflicting. We conducted a systematic review and meta-analysis to examine concordance and discordance of the status of these four biomarkers between primary tumors and corresponding metastases in CRC patients. The biomarker status in primary tumors was used as the reference standard. Concordance data for KRAS, BRAF, PIK3CA and PTEN were provided by 43, 16, 9 and 7 studies, respectively. The pooled concordance rate was 92.0% (95% CI: 89.7%-93.9%) for KRAS, 96.8% (95% CI: 94.8%-98.0%) for BRAF, 93.9% (95% CI: 89.7%-96.5%) for PIK3CA and 71.7% (95% CI: 57.6%-82.5%) for PTEN. The pooled false positive and false negative rates for KRAS were 9.0% (95% CI: 6.5%-12.4%) and 11.3% (95% CI: 8.0%-15.8%), respectively. KRAS, BRAF and PIK3CA mutations are highly concordant between primary tumors and corresponding metastases in CRC, but PTEN loss is not. Nine percent of patients with wild-type KRAS in primary tumors who received anti-EGFR treatment had mutant KRAS in metastases, while 11.3% patients with mutant KRAS primary tumors had wild-type KRAS in the metastases. These 11.3% patients currently do not receive potentially beneficial anti-EGFR treatment.
目前关于结直肠癌（CRC）原发肿瘤与转移灶之间KRAS、BRAF、PIK3CA突变状态或PTEN表达状态一致性的数据相互矛盾。我们进行了一项系统评价和荟萃分析，以研究CRC患者原发肿瘤与相应转移灶之间这四种生物标志物状态的一致性和不一致性。将原发肿瘤中的生物标志物状态用作参考标准。分别有43项、16项、9项和7项研究提供了KRAS、BRAF、PIK3CA和PTEN的一致性数据。KRAS的合并一致性率为92.0%（95%CI：89.7%-93.9%），BRAF为96.8%（95%CI：94.8%-98.0%），PIK3CA为93.9%（95%CI：89.7%-96.5%），PTEN为71.7%（95%CI：57.6%-82.5%）。KRAS的合并假阳性率和假阴性率分别为9.0%（95%CI：6.5%-12.4%）和11.3%（95%CI：8.0%-15.8%）。在CRC中，KRAS、BRAF和PIK3CA突变在原发肿瘤与相应转移灶之间高度一致，但PTEN缺失情况并非如此。在原发肿瘤中KRAS野生型且接受抗EGFR治疗的患者中，9%在转移灶中有突变型KRAS，而在原发肿瘤中有突变型KRAS的患者中，11.3%在转移灶中有野生型KRAS。这11.3%的患者目前未接受可能有益的抗EGFR治疗。
