(大肠癌早期诊断专题）高分辩率熔解曲线分析在大肠癌筛查中的应用

目的 探讨高分辨率熔解曲线分析（high-resolution melting，HRM） 在利用粪便DNA筛查大肠癌中的作用。方法 收集住院治疗的31例大肠癌患者、28例大肠腺瘤患者及20例来医院体检的正常人新鲜粪便标本，应用HRM法检测粪便中APC、K-ras、P53基因的突变情况 。结果 31例大肠癌患者粪便中APC基因突变检出率为41.9%(13/31)，K-ras基因突变检出率为35.5%(11/31)，P53基因突变检出率为54.8%(17/31)，三个基因联合检出率为67.7%(21/31)；28例大肠腺瘤患者粪便中APC基因突变检出率为25%(7/28)，K-ras基因突变检出率为14.3%(4/28)，P53基因突变检出率为46.4%(13/28)，三个基因联合检出率为64.3%(18/28)；20例正常对照粪便中APC基因突变检出率为5%(1/20)，K-ras基因突变率为0(0/20)，P53基因突变率为0(0/20)。大肠癌组和大肠腺瘤组基因突变检出率均高于正常对照组(P<0.05) ，而大肠癌和大肠腺瘤组间差异无统计学意义( P>0.05)。结论 利用HRM法检测粪便中APC、K-ras和P53基因突变在大肠癌筛查中具有潜在的应用价值。

Development of a high-resolution melting method for mutation detection in colorectal cancer patients

［Abstract］Objective To develop a high-resolution melting method for mutation detection in colorectal cancer patients using stool DNA.Methods 31 colorectal cancer,28 adenoma and 20 health adults’stool samples were collected from individuals who underwent colonoscopy in Huizhou Municipal Central Hospital from Mar 2009 to Sep 2009. HRM was performed to detect the mutation of APC,K-ras,P53, in stool DNA.Results The detection rates of APC, K-ras and P53 were 41.9%(13/31),35.5%(11/31) and 54.8%(17/31) in 31 colorectal cancer patients,association detection rate is 67.7%(21/31).The detection rates of APC, K-ras and P53 were 25%(7/28),14.3%(4/28) and 46.4%(13/28) in 28 adenoma patients,association detection rate is 64.3%(18/28). The detection rates of APC, K-ras and P53 were 5%(1/20)，0(0/20)，0(0/20) in 20 health adults,association detection rate is 0(0/20). The difference between colorectal cancer group and control group was significant (P<0.05) and there was no significant difference between colorectal cancer group and adenoma group ( P>0.05).Conclusion HRM method could detect the mutation of APC,K-ras,P53 in stool DNA and be used for colorectal cancer screening。