대한대장항문학회

환자가 암의 가족력이 노출되는 것을 기피하여 수술 후에야 알 수 있었던 HNPCC 1예를<br>경험하였기에 문헌 고찰과 함께 보고하는 바이다. 현재로서는 HNPCC의 확인 방법이 가계<br>도 조사밖에는 없으므로, 대장암을 취급할 때는 가족력에 유의하고, 특히 직계가족에 대장암<br>의 병력이 있는 경우 각별한 주의가 필요하다고 여겨진다. HNPCC의 중요 특징을 요약하면<br>다음과 같다.<br>1) 체염색체 우성 유전의 경향<br>2) 대장암의 조기 발생: 평균 46세<br>3) 대장의 근위부 침범경향; 비장 만곡부 보다 근위부에 69%<br>4) 다발성 대장암의 경향; 수술후 1년 이내(synchronous)에 18%, 1년 이후(metachronous)<br>10년까지의 발생추산 40%<br>5) 대장이외에 특정 장기암의 병발(Lynch syndrome Ⅱ의 경우)<br>#초록#<br>We experienced a case of hereditary nonpolyposis colon cancer of the site-specific<br>type (Lynch Syndrome I) with a metachronous lesion, in a 34-year-old man. But<br>preoperatively, we could not have recognized the definite heredity of the disease in his<br>family, for he had intended not to expose his family history of the malignant disease.<br>HNPCC seems to be not so well known, even though it has rather larger Proportion<br>(5∼ 10% ) in the entire colon cancer cases than the relatively well known familial<br>polyposis colon cancer which has its proportion of less than 1% in the colon cancers.<br>Up to now, there is neither a biomarker nor other means to recognize the HNPCC,<br>exept the full pedigree of the family. So, the physicians treating a colon cancer should<br>pay attention to the family history, and should be especially alert when the patient has<br>members with the colon cancer in the first degree relatives. Followings are the cardinal<br>features of HNPCC.<br>1) Autosomal dominant inheritance pattern.<br>2) Early age of colon cancer onset; mean age of 46 years.<br>3) Proximal colon cancer involvement; 69% located proximal to the splenic flexure.<br>4) Increased incidence of synchronous(18% ) and metachronous(40% by 10 yearn)<br>colon cancer.<br>5) The presence of specific extracolonic cancers in some families(Lynch Syndrome Ⅱ).<br>