Raskin G A, Ianus G A, Kornilov A V, Orlova R V, Petrov S V, Protasova A É, Pozharisskiĭ K M, Imianitov E N
Vopr Onkol. 2014;60(2):47-50.
Adenocarcinoma of the colon in 10-20% is associated with microsatellite instability, which can occur both in sporadic cancers and in hereditary nonpolyposis colon cancer. Our analysis of 195 cases of adenocarcinoma of the colon showed that microsatellite instability (MSI-H) was found only in 1.5% of patients. Subsequent choice of patients with suspected hereditary Lynch syndrome led to the identification of additional 17 patients with microsatellite instability. They passed an analysis of genes of repair system of unpaired nucleotides of DNA. The study showed that immunohistochemical staining of MSH2, MSH6, MLH1, PMS2 could effectively conduct a preliminary screening of the Lynch syndrome but was unable to divide cases of sporadic and hereditary MSI-H colon cancer.
10%-20%的结肠癌与微卫星不稳定性相关，这在散发性癌症和遗传性非息肉病性结肠癌中均可发生。我们对195例结肠癌病例的分析表明，仅1.5%的患者存在微卫星不稳定性（MSI-H）。随后对疑似遗传性林奇综合征患者的选择，又发现了另外17例微卫星不稳定性患者。他们接受了DNA不成对核苷酸修复系统基因的分析。研究表明，MSH2、MSH6、MLH1、PMS2的免疫组化染色可有效进行林奇综合征的初步筛查，但无法区分散发性和遗传性MSI-H结肠癌病例。
