肺癌与食管癌患者血浆游离DNA含量与患者临床特征的相关性

Clinical implications of the concentration and EGFR/KRAS mutations of plasma cell free DNA of patients with lung cancer and esophageal cancer

目的 探讨肺癌与食管癌患者血浆游离DNA含量与患者临床特征的相关性,分析患者肿瘤组织和血浆游离DNA的EGFR/KRAS基因突变的符合率.方法 收集2015年1-3月郑州大学附属肿瘤医院收治的肺癌及食管癌患者肿瘤组织样本、配对血浆样本共30例.采用磁珠法提取患者血浆游离DNA及组织基因组DNA,分析血浆游离DNA含量和患者临床特征的相关性.采用荧光PCR法检测患者组织基因组DNA及血浆游离DNA的EGFR/KRAS突变,分析血浆游离DNA和组织DNA突变符合率.结果 肺癌患者血浆游离DNA[（5.0±1.4） μg/L]、食管癌患者血浆游离DNA[（7.0 ±0.8）μg/L]水平与患者性别、年龄、部位、肿瘤分期无显著性相关性,与肿瘤体积呈正相关（r=0.574,P=0.01）;食管癌组织DNA与血浆游离DNA均未检测出突变.肺癌组织中共检测到6例EGFR突变,1例KRAS突变;血浆游离DNA中共检测到4例EGFR突变,1例KRAS突变.结论 肺癌、食管癌患者血浆游离DNA水平与其肿瘤负荷呈正相关,血浆游离DNA与肿瘤组织DNA的EGFR/KRAS突变具有较好的一致性。

Objective To analyze the correlation between the concentration of plasma cell free DNA （cfDNA） of patients with lung cancer or esophageal cancer and clinical features,and to assess the coincidence rate of the EGFR/KRAS mutations between the cfDNA and tumor tissue DNA.Methods A total of 30 cases lung cancer and esophageal cancer （including 15 lung cancer,15 esophageal cancer） were enrolled in this study.The tumor tissue and plasma sample of patients were collected.The tumor tissue DNA and plasma cfDNA were extracted.The EGFR/KRAS mutations of the tumor tissue DNA and plasma cfDNA were detected by fluorescence PCR.Results The concentration of cfDNA of patients with lung cancer （5.0 ± 1.4） μg/L and esophageal cancer （7.0 ± 0.8） μg/L were positively correlated with tumor size （r =0.574,P =0.01）.There was no significant correlation between the concentration of cfDNA and TNM stage of tumor,gender,and age of patients.There was no EGFR/KRAS gene mutations in tumor tissue DNA and plasma cfDNA of esophageal cancer.A total of 6 tumor tissue samples of lung cancer patients were detected EGFR mutation,and 1 tumor tissue sample was detected KRAS mutation.Meanwhile,4 plasma cfDNA samples of lung cancer patients were detected EGFR mutation,and 1 plasma cfDNA sample was detected KRAS mutation.Conclusion The concentration of cfDNA of patients with lung cancer and esophageal cancer was positively correlated with tumor burden.There was high coincidence rate of the EGFR/KRAS mutations between the cfDNA and tumor tissue DNA.