遗传性非息肉病性结直肠癌家系及临床病理特征分析

Clinicopathological study of hereditary nonpolyposis colorectal cancer families in China

目的 分析比较不同遗传性非息肉病性结直肠癌 (HNPCC)临床诊断标准和指导纲要所筛选家系的临床病理特征。方法 5 8个家系 [符合Amsterdam标准 (AC)家系 2 4个、日本标准 (JC)家系15个、Bethesda指导纲要 (BG)患者 19例 ]收入本项临床病理研究。结果 2 4个符合AC的家系共有恶性肿瘤患者 116例 ,含结直肠癌患者 90例。 15个符合JC的家系共有恶性肿瘤患者 5 4例 ,含结直肠癌患者 33例。两组家系表现相似的临床特征 ,发生第 1例结直肠癌的平均年龄分别为 4 6 .1岁和 5 1.4岁 ,右半结肠癌分别占 5 5 .4 %和 4 4 .8% ,同时或异时结直肠癌发生率分别为 2 5 .6 %和 18.2 %。两组共有肠外肿瘤患者 5 5例 ,以胃癌最多 (12例 ) ,子宫内膜癌次之 (8例 )。两组 39个家系中 34例临床病理资料完整的结直肠癌与散发性结直肠癌比较显示 ,外生性生长较多、低分化癌比例高、克罗恩病样淋巴反应常见 ,并以Dukes分期A/B为主 (P <0 .0 5 )。家系先证者中 18例术后随访存活时间超过 5年 ,最长达 2 8年。结论 用AC和JC可将临床表现有别于散发性结直肠癌的亚群———HNPCC筛选出来。这部分患者临床病理特点与散发性者明显不同。肠外肿瘤以胃癌、子宫内膜癌为常见。HNPCC患者预后较好。

Objective To study the clinicopathological characteristics of hereditary nonpolyposis colorectal cancer (HNPCC) in Chinese population with different criteria and guidelines. Methods Twenty four families fulfilling Amsterdam Criteria (AC), 15 additional families fulfilling Japanese Criteria (JC) and the remaining 19 patients fitting Bethesda Guidelines (BG) were analyzed. Results In the 24 AC families there were 116 malignant tumor patients including 90 colorectal cancer (CRC) subjects and in the 15 JC families there were 54 malignant tumor patients including 33 CRC cases. The two groups displayed similar clinical features. Mean age of first CRC at diagnosis was 46.1 and 51.4 years old, respectively. The proximal colonic cancers accounted for 55.4% versus 44.8%. Synchronous and metachronous multiple CRCs occurred in 25.6% and 18.2% of patients respectively. Totally there were 55 extracolonic tumors in the two groups. Gastric and endometrial carcinomas were two most common extracolonic tumor types in our series. The tumors of the 34 probands showed more frequent exophytic growth pattern, higher occurance of poorly differentiated carcinoma, A / B Dukes stage and more Crohn's like lymphoid reaction ( P <0.05). Follow up duration of 18/24 AC probands was over five years and the longest one was 28 years. Conclusions HNPCC can be screened clinically from sporadic colorectal cancer using Amsterdam and Japanese clinical criteria. The subset of patients, with better prognosis, has some distinguished clinicopathological characteristics. The most frequent extracolonic neoplasms in Chinese HNPCC families are gastric and endometrial carcinomas.