微卫星不稳定性-遗传性非息肉病性大肠癌诊断的分子标志:附4例报告

MSI- a useful molecular indicator of Hereditary nonpolysis colorcctal cancer: a report of 4cases

目的探讨微卫星ＤＮＡ不稳定性（Ｍｉｃｒｏｓａｔｅｌｌｉｔｅ ｉｎｓｔａｂｉｌｉｔｙ．ＭＳＩ）与遗传性非息肉病性大肠癌（Ｈｅｒｃｄｉｔａｒｙｎｏｎｐｏｌｙｓｉｓｃｏｌｏｒｅｃｔａｌｃａｎｃｅｒ，ＨＮＰＣＣ）的关系。方法采用银染ＰＣＲ－ＳＳＣＰ方法，检测４例遗传性非息肉病性大肠癌及其相应正常组织的第２、５、１７号染色体的４个位点的ＭＳＩ．结果４例ＦＩＮＰＣＣ均存在至少一个位点的ＭＳＩ。ＨＮＰＣＣ多位于右半结肠，低分化，粘液腺癌多见。结论ＭＳＩ是ＨＮＰＣＣ常见的分子学事件。ＨＮＰＣＣ有其特有的生物学特性。

Objective To stlldy the relationship between microsatellite instability (MSI) and Hereditary nonpolysis colorectal cancer(HNPCC). Methods Silver staining PCR-SSCP method was used to detect MSI at 4 loci on chromosomes 2.5 and 17 in paraffinernbedded specimens of 4 HNPCC and their paired normal tissue. Results MSI was observed in all 4 HNPCC. It was predominantlya feature of right-sided tumor. of poorly differentiated mucous adenocarcinoma. Conclusion The results indicated that MSI is acommon molecular hereditary event in HNPCC. HNPCC has characteristic special biological feature.