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www.wjgnet.com wcjd@wjgnet.com 世界华人消化杂志 2007年4月8日; 15(10): 1160-1164ISSN 1009-3079 CN 14-1260/R 临床经验 CLINICAL PRACTICE散发性结直肠癌微卫星不稳定性及其与临床病理生物学的关系杨柏林, 谷云飞, 赖仁胜, 谢 玲, 金黑鹰杨柏林, 谷云飞, 南京中医药大学附属医院肛肠科 江苏省南京市 210029赖仁胜, 谢玲, 南京中医药大学附属医院病理科 江苏省南京市 210029金黑鹰, 南京中医药大学第三附属医院全国肛肠医疗中心 江苏省南京市 210001国家自然科学基金资助项目, No. 30572447通讯作者: 金黑鹰, 210001, 江苏省南京市, 南京中医药大学第三附属医院全国肛肠医疗中心. jinheiying@yahoo.com.cn收稿日期: 2006-12-15 接受日期: 2007-02-08Microsatellite instability in sporadic colorectal cancer and its relationship with clinicopathological features Bo-Lin Yang, Yun-Fei Gu, Ren-Sheng Lai, Ling Xie, Hei-Ying JinBo-Lin Yang, Yun-Fei Gu, Department of Anal and Intes-tinal Disease, the Affiliated Hospital of Nanjing University of Traditional Chinese Medicine, Nanjing 210029, Jiangsu Province, ChinaRen-Sheng Lai, Ling Xie, Department of Pathology, the Affiliated Hospital of Nanjing University of Traditional Chinese Medicine, Nanjing 210029, Jiangsu Province, ChinaHei-Ying Jin, National Center of Colorectal Surgery, the Third Affiliated Hospital of Nanjing University of Tradi-tional Chinese Medicine, Nanjing 210001, Jiangsu Prov-ince, ChinaSupported by National Natural Science Foundation of China, No. 30572447Correspondence to: Hei-Ying Jin, National Center of Colorectal Surgery, the Third Affiliated Hospital of Nan-jing University of Traditional Chinese Medicine, Nanjing 210001, Jiangsu Province, China. jinheiying@yahoo.com.cnReceived: 2006-12-15 Accepted: 2007-02-08 AbstractAIM: To analyze the relationship between microsatellite instability (MSI) and clinicopatho-logical features in sporadic colorectal cancer and its clinical significance.METHODS: Fluorescence multiplex polymerase chain reaction was used to detect the microsatel-lite instability with five microsatellite loci in 105 patients with sporadic colorectal cancer. The clinicopathological features characterized by mi-crosatellite instability and microsatellite stability were compared statistically.RESULTS: We found microsatellite instability in 24.7% of sporadic colorectal cancer patients, including 14 (13.3%) cases with MSI-high, 12 (11.4%) cases with MSI-low, and 79 (75.3%) cases with MS-stable (MSS). The instability of D5S346 was found in 6 cases (5.6%), BAT-26 in 9 (8.6%) cases, BAT-25 in 11 (10.5%) cases, D17S250 in 9 (8.6%) cases, and D2S123 in 11 cases (10.5%). The differentiation and lymph node metastasis status between MSI- and MSS-positive colorectal cancer was statistically different (P = 0.047, P = 0.029), but not the remaining variables (P > 0.05).CONCLUSION: Low differentiation and metas-tasis are found in MSI-positive sporadic colorec-tal cancer, which may be one cause of a favor-able survival.Key Words: Sporadic colorectal cancer; Microsatel-lite instability; Clinicopathological featuresYang BL, Gu YF, Lai RS, Xie L, Jin HY. Microsatellite instability in sporadic colorectal cancer and its relationship with clinicopathological features. Shijie Huaren Xiaohua Zazhi 2007;15(10):1160-1164摘要目的: 探讨分析中国人散发性结直肠癌微卫星不稳定的变异及其与临床病理生物学特征的关系. 方法: 应用荧光多重PCR方法检测105例散发性结直肠癌初诊患者微卫星状态, 分析MSI结直肠癌潜在的相关临床病理生物学特征. 结果: 105结直肠癌中, MSI检出率24.7%, 其中MSI-H 14例(13.3%), MSI-L 12例(11.4%); 队列中各位点突变率分别是D5S346(5.7%), BAT26(8.6%), BAT25(10.5%), D17S250(8.6%), D2S123(10.5%); MSI结直肠癌的组织分化程度与淋巴结转移情况与MSS结直肠癌有显著的统计学差异(P = 0.047, P = 0.029), 但在患者®■背景资料结直肠癌的发生是一个涉及多基因、多途径的过程, 被认为是多个控制生长和分化位点基因突变累积的结果. 目前认为结直肠癌形成的主要途径有两条: 一是染色体不稳定(CIN),即由癌基因的异常激活、抑癌基因的失活引起的杂活缺失(LOH),导 致 腺 瘤 - 癌 发生, 与之有关的基因如APC、p53基因、K-ras基因等, 约80%的结直肠癌形成与之有关; 另一是微卫星不稳定(MSl),由于错配修复基因(MMR)的突变,引起的DNA错配修复系统功能降低或缺失, 从而引起遗传物质不稳定, 主要表现为微卫星不稳定性, 10%-15%散发性结直肠癌和遗传性非息肉病性结直肠癌与MSI有关.