Ponz de Leon M, Della Casa G, Benatti P, Percesepe A, di Gregorio C, Fante R, Roncucci L
Dipartimento di Medicina Interna, Università di Modena, Italy.
Cancer Epidemiol Biomarkers Prev. 1998 Jul;7(7):639-41.
In hereditary nonpolyposis colorectal cancer (HNPCC, or Lynch syndrome) a close surveillance is usually proposed to high-risk family members with the ultimate goal of reducing cancer incidence and mortality. Through a specialized registry, between 1984 and 1996, we identified 31 families with clinical features of HNPCC. A total of 390 first-degree relatives of affected patients were considered at high risk for colorectal cancer. The main purposes of this study were: (a) to assess overall compliance; and (b) to evaluate the frequency and morphological features of tumors detected at endoscopy. Two hundred twenty-three subjects could be directly interviewed and colonoscopy strongly recommended. Each of the 86 individuals who underwent colonoscopy was matched to a control of the same age (+/-3 years) and sex (control subjects were seeking endoscopy for constipation, rectal bleeding or abdominal discomfort). Of the 390 individuals traced as "at risk," 223 (57.2%) could be contacted, and, of these, 86 (38.6%, or 22.0% of the total) underwent colonoscopy. One or more colorectal lesions were found in 35 of 86 (40.7%) HNPCC asymptomatic family members and in 15 (17.4%; P < 0.001) controls. In the former group, 29 adenomas were detected in 20 individuals as opposed to 11 adenomas in 9 subjects among controls (P < 0.03). Moreover, adenomas in family members were significantly larger [9.1 +/- 5.9 mm (mean +/- SD) versus 5.8 +/- 3.7 mm; P < 0.02] and more frequently showed a tubulovillous histological type and a high degree of dysplasia. Five colorectal carcinomas (in four patients) were detected among cases (four of which were located between the cecum and the hepatic flexure); only one was detected among controls. Surveillance of high-risk subjects in HNPCC families can be carried out only in a fraction of them, because the majority cannot be reached or refuse to collaborate. On the other hand, the frequency of newly detected lesions among family members and the possible aggressive behavior of the lesions render pancolonoscopy necessary at regular intervals of time.
在遗传性非息肉病性结直肠癌（HNPCC，即林奇综合征）中，通常建议对高危家庭成员进行密切监测，最终目标是降低癌症发病率和死亡率。通过一个专门的登记处，在1984年至1996年期间，我们确定了31个具有HNPCC临床特征的家庭。共有390名受影响患者的一级亲属被认为有患结直肠癌的高风险。本研究的主要目的是：（a）评估总体依从性；（b）评估在内镜检查中检测到的肿瘤的频率和形态特征。223名受试者可以直接接受访谈，并强烈建议进行结肠镜检查。接受结肠镜检查的86名个体中的每一个都与一名年龄相同（±3岁）且性别相同的对照者匹配（对照者因便秘、直肠出血或腹部不适而寻求内镜检查）。在追踪为“高危”的390名个体中，223名（57.2%）能够被联系上，其中86名（38.6%，占总数的22.0%）接受了结肠镜检查。在86名无症状的HNPCC家庭成员中有35名（40.7%）发现了一个或多个结直肠病变，而在15名对照者中发现了病变（17.4%；P<0.001）。在前一组中，20名个体检测到29个腺瘤，而对照组9名受试者检测到11个腺瘤（P<0.03）。此外，家庭成员中的腺瘤明显更大[9.1±5.9毫米（平均值±标准差）对5.8±3.7毫米；P<0.02]，并且更频繁地表现为绒毛管状组织学类型和高度发育异常。在病例组中检测到5例结直肠癌（4名患者）（其中4例位于盲肠和肝曲之间）；对照组仅检测到1例。对HNPCC家庭中的高危受试者进行监测只能在其中一部分人中进行，因为大多数人无法联系到或拒绝合作。另一方面，家庭成员中新发现病变的频率以及病变可能的侵袭性行为使得定期进行全结肠镜检查成为必要。
