遗传性非息肉病性结直肠癌九个家系的诊治和随访  

Diagnosis , treatment and follow- up of 9 hereditary non- polyposis colorectal cancer pedigrees

作　　者：王振军[1] 万远廉[1] 刘玉村[1] 黄莚庭[1] 

机构地区：[1]北京大学第一医院外科,100034

出　　处：《中国胃肠外科杂志》2000年第4期217-219,共3页

基　　金：国家自然科学基金资助项目!( 39970817);国家教委归国人员基金资助项目! (1999年 )

摘　　要：目的 总结遗传性非息肉病性结直肠癌（ HNPCC） 9个家系的诊断、治疗和随访经验。方法 对我院经治的 9个 HNPCC家系的诊治情况和随访结果进行回顾性分析。结果 9个家系中共有患者 35例 (结直肠癌患者 28例 )，平均发病年龄为 47岁。 35例患者共被诊断为各种恶性肿瘤 55例次，其中结肠癌 29例次（右侧结肠癌 23例次），直肠癌 12例次，胃癌 4例次，子宫内膜癌和宫颈癌 5例次，食管癌 2例次，乳腺癌、胰腺癌、脑恶性胶质瘤各 1例次。在本组诊断多原发癌患者 11例 ,含异时性多原发结肠癌 8例。 28.5％的结直肠癌患者首次手术 10年内再发异时性结直肠癌而需手术治疗。随诊中发现 2例多原发性结直肠癌患者继发肝转移，另 2例患者发现有 4枚结肠息肉，均经结肠镜切除。结论 常规根治手术不适于本病结直肠癌患者的治疗 ,对已发生结直肠癌的 HNPCC患者应行全结肠（直肠）切除术。对术后患者和可能的突变基因携带者应积极随访，及时切除发现的息肉。Objective To analyze the diagnosis, treatment and follow- up of hereditary non- polyposis colorectal cancer (HNPCC) pedigrees. Methods The diagnosis, treatment and follow- up of 9 HNPCC pedigrees were analyzed retrospectively. Results Fifty- five malignant neoplasms were diagnosed in 35 patients with a mean age of 47 years old among 9 pedigrees, including 29 colon, 12 rectum, 5 endometric， 4 gastric and 2 esphagous cancers. There were 11 multiple primary cancers, including 8 metachronous colorectal cancers. 28.5％ colorectal patients had metachronous cancer within 10 years and needed another operation. In the follow- up, 2 patients with metachronous cancer developed liver metastases, and 4 polyps were found in 2 postoperative patients and were excised endoscopically. Conclusions Total colorectomy may be more suitable than routine one for colorectal cancer patients in HNPCC pedigrees. If genetic analysis is not available, all patients and possible gene carriers should be followed up aggressively and polyps should be excised.

关 键 词：结肠直肠肿瘤 遗传性非息肉病 诊断 治疗 随访 

分 类 号：R735.3[医药卫生—肿瘤]