对HNPCC家系中MMR基因突变携带者结肠镜随访监测的临床意义

The clinical significances of concomitant colonoscopies in hereditary non-polyposis colorectal cancer family members with MMR gene mutation

目的:探讨对遗传性非息肉病性结直肠癌(HNPCC)家系中错配修复(MMR)基因突变携带者进行结肠镜随访监测的临床意义。方法:回顾性分析2002年1月至2008年10月对43个HNPCC家系中的97例突变携带者进行结肠镜的随访监测的结果,并对结果进行统计分析和总结。结果:(1)随访组中健康携带者的结直肠癌的发生率为0%(0/28),明显低于未随访组的35.5%(11/31)。(2)随访组中已患癌成员的结直肠癌再发生率为14.5%(10/69),明显低于未随访组的43.8%(7/16)。(3)随访组的五年生存率(96.9%)明显高于未随访组(61.7%)。结论:进行规律的结肠镜随访监测,对降低HNPCC家系中健康突变携带者结直肠癌的发生率及已患癌携带者再发癌的发生,降低患者的死亡率,提高5年生存率等具有重要的临床意义。

Objective To evaluate the clinical significances of concomitant colonoscopies in hereditary non-polyposis colorectal cancer（HNPCC） family members with MMR gene mutation.Methods The findings of concomitant colonoscopies performed from January in 2002 to October in 2008 for the 97 MMR gene mutation carriers in 43 HNPCC pedigrees were statistically analyzed retrospectively.Results（1）The morbidity of CRC of the healthy carriers in the group with follow up is much lower than the group without follow up;（2）The morbidity of CRC of the patients in the group with follow up is much lower than the group without follow up.（3）The 5-year-life rate of the group with follow up is much longer than the group without follow up.Conclusion Colonoscopic surveillance has important clinical significance with colorectal cancers on reducing the incidence of colorectal cancer and lowering the overall mortality for healthy persons and patients of HNPCC pedigrees with the MMR mutation.