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[目的]提高对遗传性非息肉病性大肠癌(HNPCC)临床诊断的认识。[方法]对有2例以上大肠癌 ,或1例大肠癌并1例以上HNPCC相关肿瘤以及发病年龄小于40岁患者的家系进行家系调查和诊断分析。[结果]70个家系中有8个家系符合HNPCC诊断标准 ,8个家系共有24例大肠癌病人 ,平均年龄44岁。共有大肠癌灶35个 ,20个分布于脾曲近端的结肠。6例为多原发大肠癌。62个家系符合可疑HNPCC诊断标准 ,其中2个家系符合可疑HNPCC诊断标准Ⅰ ,60个家系符合可疑HNPCC诊断标准Ⅱ。62个家系共有65例大肠癌病人 ,平均年龄30.5岁。共有大肠癌灶68个 ,49个癌灶分布于脾曲远端的结肠或直肠。2例为多原发大肠癌。[结论]熟悉HNPCC诊断标准和可疑HNPCC诊断标准对临床诊断至关重要。有必要对可疑HNPCC诊断标准Ⅱ进行修改。
[Objective] To improve the understanding of the clinical diagnosis of hereditary nonpolyposis colorectal cancer (HNPCC). [Method] A pedigree investigation and diagnostic analysis were performed on two or more cases of colorectal cancer, one case of colorectal cancer, and one case of HNPCC related tumors and the age of onset less than 40 years. [Results] Eight out of 70 pedigrees met HNPCC diagnostic criteria. A total of 24 colorectal cancer patients were found in 8 pedigrees with a mean age of 44 years. A total of 35 colorectal lesions, 20 distributed in the proximal splenic colon. 6 cases of multiple primary colorectal cancer. 62 families were in accordance with the suspicious HNPCC diagnostic criteria, of which 2 families met the suspect HNPCC diagnostic criteria Ⅰ, 60 families with suspicious HNPCC diagnostic criteria Ⅱ. A total of 62 families of colorectal cancer patients, with an average age of 30.5 years. A total of 68 colorectal lesions, 49 lesions located in the spleen distal colon or rectum. 2 cases of multiple primary colorectal cancer. [Conclusion] Familiarity with HNPCC diagnostic criteria and suspicious HNPCC diagnostic criteria are of crucial importance in clinical diagnosis. It is necessary to suspect HNPCC diagnostic criteria Ⅱ to be modified.