非同位素PCR-SSCP检测结、直肠癌组织MCC突变  

Analysis on mutation of MCC gene in patients with colorectal carcinoma by silver staining polymerase chain reaction-single strand conformation poly- morphism

作　　者：林金容[1] 姜泊[1] 林鸿[1] 张亚历[1] 周殿元[1] 

机构地区：[1]第一军医大学南方医院全军消化病研究所

出　　处：《中华消化杂志》1998年第6期331-333,共3页Chinese Journal of Digestion

摘　　要：目的探讨中国人结、直肠癌与 MCC 突变的关系。因为结、直肠癌的发生发展与抑癌基因的变化密切相关,包括等位基因缺失、突变、插入、染色体重排等。方法应用非同位素 PCR-SSCP 检测45例中国人结、直肠癌 MCC 突变。结果 45例患者中,MCC 突变13例,占28.9%,其中高分化腺癌5/15例(33.3%),中分化腺癌6/18例(33.3%),低分化腺癌2/12例(16.7%)。Dukes 分期与 MCC 突变的关系:A 期5/15例(33.3%),B 期2/16例(12.5%),C 期4/9例(44.4%),D 期2/5例(40.0%)。淋巴结转移 MCC 突变率6/14例(42.9%),无淋巴结转移7/31例(22.6%)。CEA 升高 MCC 突变率为2/8例(25.0%),CEA 正常中 MCC 突变率11/37例(29.7%)。有癌症家族史1/4(25.0%),其中家族性腺瘤性息肉病结、直肠癌1/3例(33.3%),无癌症家族史12/41例(29.3%)。结论 MCC 基因突变为结、直肠癌常见变化基因事件,且与肿瘤临床分期、组织学类型、血清 CEA 水平、有无淋巴结转移及癌症家族史无关。Objective Development of colorectal carcinoma is related to altered tumor suppressor genes including deletion,mutation,insertion and rearrangement of DNA.The relationship between colorectal cancer in Chinese patients and mutated colorectal carcinoma gene (MCC) was studied.Methods Mutation of MCC in 45 patients with colorectal carcinoma was detected by silver staining polymerase chain reaction single strand conformation polymor- phism(PCR-SSCP).Results Of 45 cases with colorectal carcinoma,13(28.9%) were found with MCC mutation,among which 5(33.3%),6(33.3%) and 2(16.7%) were well-differentiated,moderately differentiated and poorly differentiated adeno-carci- noma,respectively.Mutation of MCC was present in 5(33.3%) with Dukes A stage,2 (12.5%) with B,4(44.4%) with C and 2(40.0%) with D.Abnormal MCC was detected in 2 patients(25.0%) with a high serum level of CEA and 11(29.7%) with normal CEA.Involvment of MCC mutation was found in 7 patients(22.6%)with lymph node metastasis and 6(43.0%)without.MCC variation was also discovered in one patient (25.0%)with a familial history of cancer,but in 12 patients (29.3%) with no familial history of cancer.Conclusion MCC mutation is a common event in colorectal carcinoma and was not related to Dukes staging,lymph node metastasis,serum CEA, cancer family history and histological types.

关 键 词：直肠肿瘤 MCC基因 突变 结肠肿瘤 

分 类 号：R735.350.2[医药卫生—肿瘤]