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微卫星不稳定性大肠癌及其临床特征研究

Study of Mismatch Repair Deficiency in Colorectal Cancer and its Clinical Significance

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【作者】 熊斌郑树蔡心涵

【Author】 Xiong Bin, Zheng Shu, Cai Xinhan

【机构】 浙江医科大学肿瘤研究所

【摘要】 目的了解国人散发性大肠癌微卫星不稳定性(MI)情况,为大肠癌易感人群的筛选和监测,化学预防和阻断提供理论依据。方法用D2S123,D2S119,D13S160,D18S282,D3S1293, D18S58六个微卫星位点检测,PCR扩增所选位点,PCR产物用8%变性聚丙烯酰胺凝胶电泳,银染分析结果。结果60例经病理证实的大肠癌中,20例(33.3%)表现微卫星不稳定性,其中11例 (18.3%)为RER阳性。RER阳性与RER阴性大肠癌相比,发病年龄较年轻,RER阳性平均年龄为52±14岁,RER阴性为57±13岁(P=0.18);6例40岁以下的大肠癌中,PER阳性3例 (50%),54例40岁以上的病例中,RER阳性8例(14.8%,p<0.05);11例PER阳性大肠癌中,4 例(36.5%)一级亲属有恶性肿瘤病史,阴性患者为8.2%(p<0.05)PER阳性大肠癌倾向位于结肠,呈浸润性生长,Duke’s分期Ⅲ—Ⅳ期比例高。5例大肠癌伴大肠腺瘤病例,2例腺瘤和腺癌均为 PER阳性,2例仅腺瘤有MI,而腺癌无,另一例腺瘤和腺癌均无MI。结论:中国人大肠癌微卫星不稳定性较常见,其发生率介于国外文献报告之间,微卫星不稳定性为大肠癌形成过程中的早期分子事件,PER为肿瘤易感指标之一,PER阳性家族应列入高危人群监护。

【Abstract】 Objective To evaluate the microsatellite instability (MI) in colorectal cancer in China and provide useful genetic markers for screening risk individuals with colorectal or other tumors. Method RER status were carried out by using D2S123, D2S119, D13S160, D8S282, D3S1293 and D18S58 microsatellite markers. The 6 selected microsatellite loci were amplified by PCR techniques. PCR products were separated on denatured polyacrylamide gel and then stained by silver salt. Results Of the cases 33.3%(20/60) showed microsatellite instability at one or more than one locus,18.3%(11/60) of the cases were MI positive at two or more than two loci, that is to say RER positive. It was found that RER—positive cases with a family history of malig- nant tumor (36.5%) were significant higher than of RER—negative cases (8.2% ,P<0.05). By comparing RER—positive cases with RER—negative cases,we found that RER—positive group had some different tendency from RER—negative group as follows.(1)tendency towards younger age,The proportion(50% of 6 patients) of RER in patients with 40 years old or younger was higher than (14.80% of 54 patients) in patients older than 40 years. (2)Tendency towards location at colon, (3) Tendency towards infiltration growth. Conclusions MI phenotype might be present ubiquitously in sporadic colorectal cancers in China. Its positive ratio was consistent with that of other reports. MI was the relatively early molecular events in development of colorectal cancers. RER might be a probabling useful sign of the group with high risk of developing colorectal can- cers.

  • 【会议录名称】 第六次全国大肠癌会议暨中日韩大肠癌会议论文汇编
  • 【会议名称】第六次全国大肠癌会议暨中日韩大肠癌会议
  • 【会议时间】1998-09
  • 【会议地点】中国黑龙江哈尔滨
  • 【分类号】R735.34
  • 【主办单位】中国抗癌协会大肠癌专业委员会
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