摘要
目的分析遗传性非息肉病性结直肠癌(HNPCC)家系临床及病理特点。方法收集符合Amsterdam标准Ⅱ的8例HNPCC家系资料,绘制家系图谱。结果HNPCC发病率为1.59%,8个HNPCC家系总发病人数为31例,其中结直肠癌患者为25例,肠外相关肿瘤6例,8例先证者中6例为女性,2例为男性,4例发病年龄小于40岁,发病部位位于右半结肠为2例,左半结肠3例,直肠3例,组织学分型以中至低分化腺癌为主;均未出现淋巴结及远处转移;8例先证者错配修复(MMR)蛋白表达异常的为5例。结论HNPCC先证者发病年龄轻,组织学分型较好,家系成员发病率高,对其家族成员进行定期检查和及时治疗将能有效地预防其发生并降低死亡率;MMR基因突变检测对提高HNPCC的诊断起重要作用。
Objective To analyze the clinical and pathological features of patients with hereditary nonpolyposis colorectal cancer (HNPCC). Methods The data of 8 HNPCC pedigrees according with Amsterdam standard II were collected and their pedigree trees were generated. Results The morbidity of HNPCC was 1.59%. Thirty-one patients were found in the 8 HNPCC pedigrees including 25 with colorectal cancer and 6 with extraintestinal tumors. The 8 prohands consisted of 6 female and 2 male patients, among whom 4 were younger than 40 years old, 2 had lesions in the right colon, 3 in the left colon, and 3 in the rectum. The tumors were histologically identified mainly as highly to modeerately differentiated adenocarcinoma; all the patients were free of lymph node or distant metastasis. Of the 8 prohands, 5 had abnormal expression of MMR protein and only 1 had normal expression. Conclusions The HNPCC prohands are characterized by early onset at a young age and high differentiation of the tumor. The members of the pedigrees show a high incidence of the malignancies, and regular examination and timely treatment can be effective in preventing the tumor occurrence and reducing the mortality. Detection of MMR gene mutation can be a crucial approach to raising the diagnostic rate of HNPCC.
出处
《南方医科大学学报》
CAS
CSCD
北大核心
2009年第12期2397-2400,共4页
Journal of Southern Medical University
基金
国家自然科学基金资助项目(编号:30500595)
广东省医学科学技术研究基金:wstjj20071210412901197403141517