CAJ | 학술논문

Lynch综合征是一种常染色体显性遗传性疾病，因DNA错配修复基因（mismatch repair，MMR）存在胚系突变导致大肠癌、子宫内膜癌等相关肿瘤的遗传易感，虽然该病总体所占比例不高（仅3％～5％大肠癌／内膜癌属Lynch综合征），但对这部分病例的正确诊断将使患者及家人受益。本文结合文献及国际诊疗指南报道了两例Lynch综合征，这两例患者的大肠癌和内膜癌具有不同的临床病理特点及MMR蛋白失表达，结合文献提示，Lynch综合征的子宫内膜癌和大肠癌，两者MMR基因突变、蛋白失表达、相关分子机制特点及生物学行为不完全一致，故临床筛查策略与流程也不尽相同，免疫组织化学筛查方法简单易行，在大肠癌和内膜癌这些临床常见的肿瘤中进行筛查，可发现肿瘤易感人群，临床意义重大。
Lynch종합정시일충상염색체현성유전성질병，인DNA착배수복기인（mismatch repair，MMR）존재배계돌변도치대장암、자궁내막암등상관종류적유전역감，수연해병총체소점비례불고（부3％～5％대장암／내막암속Lynch종합정），단대저부분병례적정학진단장사환자급가인수익。본문결합문헌급국제진료지남보도료량례Lynch종합정，저량례환자적대장암화내막암구유불동적림상병리특점급MMR단백실표체，결합문헌제시，Lynch종합정적자궁내막암화대장암，량자MMR기인돌변、단백실표체、상관분자궤제특점급생물학행위불완전일치，고림상사사책략여류정야불진상동，면역조직화학사사방법간단역행，재대장암화내막암저사림상상견적종류중진행사사，가발현종류역감인군，림상의의중대。
Lynch syndrome is an autosomal dominant genetic disease characterized by the early onset of colon cancer, endometrial cancer and other tumors caused by a genetic mutation within DNA mismatch repair (MMR) genes.A small subgroup (approximately 3% -5%) of endometrial cancer and colorectal cancer is related to Lynch syndrome .Identification of these patients in clinical practice will be of great benefit to the relatives and patients themselves .We reported two cases, and reviewed the literature and clinical diagnostic guideline.MMR protein was lost in the tumors.Meanwhile the two cases had different clinicopathological characteristics.Together with the literature, our findings may suggest that the MMR protein expression, associated molecular alterations and clinicopathological features and biological behavior of endometrial cancer and colorectal cancer related to Lynch syndrome are different .Thus the algorithm for detection the patients at highest risk is different .To detect the MMR loss by immunohisto-chemistry is a practicalscreening method.