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散发性错配修复缺陷大肠癌的临床及分子生物学特征

Clinical and molecular biological characters of sporadic mismatch repair deficient colorectal cancer
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摘要 目的 :探讨散发性大肠癌中表现微卫星不稳定性 (microsatelliteinstability ,MSI)大肠癌的临床病理和分子生物学特征。方法 :79例未接受术前抗肿瘤治疗的大肠癌根治术组织收入研究 ,分析 14个微卫星位点、K ras基因和TGFβ RII基因异常。结果 :30 / 79例 (38% )大肠癌显示不同程度MSI。 11/ 79(14% )显示高度MSI(≥ 3个位点 ) ,其中 9例 (81% )显示TGFβ RII基因 (A) 10处的框架移位 ,而只有 1/ 10 (10 % )肿瘤带有K ras基因突变 ,这组患者有较好预后的倾向 ;低度MSI肿瘤在≤ 2位点中显示MSI ,其分子生物学特征与非MSI肿瘤无差异。结论 :肿瘤示高度MSI的患者 ,其临床病理及分子生物学特征与HN PCC相似 ,并有较好预后的倾向。应在诊治过程中注意鉴别这组患者 。 Purpose To analyze a patient subgroup with colorectal cancer(CRC) showing MSI (microsatellite instability) and compare the clinicopathological parameters with the molecular phenotype of their tumors. Methods Seventy nine tumors derived from CRC patients without adjuvant treatment were included in the study. Alterations in 14 mostly intragenic microsatellite markers, mutations in the K ras gene and the TGFβ RII gene were studied. Results 30/79 (38%) CRC displayed different level MSI, with 11/79 (14%) showing high level MSI (MSI≥3 loci in the loci studied). Major high level MSI tumors (9/11, 81%) had a frameshift mutation at (A)10, while only 1 out 10 (10%) tumor possessed K ras gene mutation. Patients with low level MSI and no MSI has no difference in their molecular characters and clinical phenotypes. Conclusion The subgroup of patients with high MSI has similar clinicopathological behavior like HNPCC associated cancers such as predominantly proximal tumor site, mucinous tumor type and a better prognosis than remaining sporadic CRC.
出处 《临床与实验病理学杂志》 CAS CSCD 2000年第4期290-293,共4页 Chinese Journal of Clinical and Experimental Pathology
基金 德国海德堡 /曼海姆肿瘤中心!(TumorzentrumHeidelberg/Mannheim IV I 2 ) 德国癌症援助项目资助!(DeutscheKrebshilfe 70 1940
关键词 微卫星不稳定性 错配修复 大肠癌 分子生物学 colon neoplasms microsatellite instability (MSI) mismatch repair
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