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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 summarize the diagnosis, treatment and follow-up experience of 9 families with hereditary non-polyposis colorectal cancer (HNPCC). Methods The retrospective analysis of the treatment and follow-up results of 9 HNPCC families treated in our hospital was conducted. Results There were 35 patients (28 colorectal cancer patients) in 9 families. The average age of onset was 47 years old. Thirty-five patients were diagnosed as having various malignant tumors, including 29 cases of colon cancer (23 cases of right colon cancer), 12 cases of rectal cancer, 4 cases of gastric cancer, 4 cases of endometrial cancer, and 5 cases of cervical cancer. Cases, 2 cases of esophageal cancer, breast cancer, pancreatic cancer, brain glioma 1 case each. In this group, 11 patients with multiple primary cancers were diagnosed, including 8 cases of heterogenic multiple primary colon cancer. 28.5% of patients with colorectal cancer relapsed for the first time within 10 years and required surgery. Two patients with multiple primary colorectal cancer secondary liver metastases were found following follow-up. The other two patients had four colon polyps and were all underwent colonoscopic resection. Conclusion Conventional radical surgery is not suitable for the treatment of patients with colorectal cancer in this disease. For patients with HNPCC who have developed colorectal cancer, total colon (rectal) resection should be performed. Patients with postoperative patients and possibly mutated gene carriers should be actively followed up to remove the discovered polyps in time.