遗传性非息肉病性大肠癌20家系81例患者临床病理分析
王石林 顾国利 魏学明
（空军总医院普通外科 北京 100036）
联系电话：010-66928302，13331161080王石林
E-Mail：wangshilin @ medmail.com.cn
[摘要]目的：探讨遗传性非息肉病性大肠癌（HNPCC）的临床病理特点和预后。方法：选取1990年1月至2007年10月间我院收治的遗传性非息肉病性大肠癌20家系81例病人组成HNPCC组，随机选取同期收治的散发性大肠癌72例组成散发组；回顾分析两组的临床病理和随访资料，比较两组的临床病理特点和预后差异。结果： HNPCC组和散发组在性别方面无显著差异，但在发病年龄、肿瘤部位、病理类型、肿瘤分期和预后方面统计学差异显著。HNPCC具有发病年龄早、病理分化差、右半结肠多见、多原发癌多见的特点，但其5年生存率好于散发性大肠癌。结论：HNPCC的临床病理特点突出，其生物学行为与散发性大肠癌明显不同，预后比散发性大肠癌好。
[关键词]遗传性非息肉病性大肠癌；临床病理学；预后。
[中图分类号]R735.3；R656.9 [文献标识码]A
Clinicopathological feature of hereditary nonpolyposis colorectal cancer: an analysis of 20 genealogies 81 cases
WANG Shi-Lin, GU Guo-Li, WEI Xue-Ming
Department of General Surgery, General Hospital of Air force PLA, Beijing 100036, China
[Abstract]Objective To explore the clinicopathological feature and prognosis of hereditary nonpolyposis colorectal cancer (HNPCC). Methods Data of colorectal cancer patients admitted to our hospital from Jan 1990 to Oct 2007 were analyzed retrospectively. Patients were divided into HNPCC group and sporadic colorectal cancer (sporadic CRC) group. Clinicopathological feature and prognosis were compared between two groups. Results The two groups had significant differentia not in sex; but in onset age, localization of tumor, pathological differentiation, clinical stage of tumor and prognosis. HNPCC group presented several particular clinicopathological features, such as early onset, frequent localization in proximal colon, proclivity of synchronous and metachronous tumors, excessive mucinous and poorly differentiated tumors, high incidence of extracolonic malignancies, and so on. But the prognosis of HNPCC group was better than sporadic CRC group. Conclusion The clinicopathological feature of HNPCC is prominent. HNPCC and Sporadic CRC significantly differ in their biological behavior. The prognosis of patients with HNPCC is better than sporadic CRC.
[Keywords] Hereditary nonpolyposis colorectal cancer; Clinical pathology, Prognosis. 遗传性非息肉病性大肠癌(HNPCC)又称Lynch综合征，是一种由错配修复基因（MMR）种系突变引起的常染色体显性遗传病。其遗传病因特殊、临床病理特点突出，是近十余年来大肠癌和遗传性肿瘤的研究热点。通过家系调查1990年1月至2007年10月间我科收治的大肠癌病例共发现HNPCC家系20个、肿瘤患者81例。现就其临床病理和随访资料与随机选取同期收治的72例散发性大肠癌病例进行回顾性分析，探讨HNPCC的临床病理特点和预后，以期加深对该病的认识，提高临床诊治水平。
资料与方法
对1990年1月至2007年10月间我科收治的全部大肠癌病例就以下内容进行详细的家系调查：一级亲属人数、患肿瘤人数、性别、年龄、诊断、手术、预后情况等，术后采用电话、信访或门诊检查的方式进行随访。HNPCC病例分为典型组和非典型组，典型HNPCC组选用Amsterdam标准Ⅱ[1]，非典型HNPCC组选用日本标准[2]。随机选取同期收治的没有家族遗传倾向的72例散发性大肠癌病例组成散发组。三组临床资料见表1，将三组的临床病理资料采用SPSS13.0软件包进行统计，计数资料采用χ2检验，正态分布的计量资料采用单因素方差分析，生存率采用Kaplan-Meier生存曲线法统计分析。 
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