Losso Graziele Moraes, Moraes Roberto da Silveira, Gentili Arthur C, Messias-Reason Iara Taborda
Universidade Federal do Paraná, Curitiba, PR, Brazil.
Arq Bras Cir Dig. 2012 Oct-Dec;25(4):240-4. doi: 10.1590/s0102-67202012000400006.
BACKGROUND: Colorectal cancer has an important genetic component. Microsatellites are considered phenotypic markers of prognosis, therapeutic response and identify patients with mutations in DNA repair genes. AIM: To evaluate the molecular profile of tumors underwent to transanal endoscopic microsurgery-TEM in surgical treatment of rectal cancer. METHOD: Thirty eight surgical specimens were evaluated according to pathological staging and the region of the tumor were dissected and submitted to DNA extraction. The colorectal tumors were tested for microsatellite instability-MSI using a panel of five markers (BAT25, BAT26, D2S123, D5S346, and D17S2720) technique of Polymerase Chain Reaction (PCR). RESULT: From total 63% were male and 47% female, with mean age of 58.4 years. In relation to tumor type adenomas were 58%, 24% low-grade adenomas and 76% high grade; 42% were carcinomas. The depth of resection 80% included the rectal perirenal fat and 20% the muscularis propria. The most frequent microsatellite amplification was BAT26 (100%) and lowest D17S2720 (85.4%). Sixteen patients (42%) were MSI, ten were carcinomas, two low grade adenomas and four high grade. Twenty-two cases (68%) showed microsatellite stable-MSS. The allelic loss of microsatellite markers was statistically significant in cases of carcinoma in relation to adenomas. The most frequent microsatellite amplification was BAT26 (100%) and lower D17S2720 (85.4%), 16 patients (42%) had microsatellite instability-MSI thereof ten were carcinomas, two low grade adenomas, four high-grade adenomas and 22 cases (58%) were microsatellite stable-MSS. CONCLUSION: Microsatellite instability (MSI-H) was significantly associated with rectal carcinomas, confirming its use as a prognostic marker in colorectal carcinogenesis.
背景:结直肠癌具有重要的遗传成分。微卫星被认为是预后、治疗反应的表型标志物,并可识别DNA修复基因发生突变的患者。 目的:评估经肛门内镜显微手术(TEM)治疗直肠癌时肿瘤的分子特征。 方法:根据病理分期对38个手术标本进行评估,解剖肿瘤区域并进行DNA提取。使用一组五个标志物(BAT25、BAT26、D2S123、D5S346和D17S2720)的聚合酶链反应(PCR)技术检测结直肠肿瘤的微卫星不稳定性(MSI)。 结果:总共63%为男性,47%为女性,平均年龄58.4岁。关于肿瘤类型,腺瘤占58%,低级别腺瘤占24%,高级别腺瘤占76%;癌占42%。切除深度80%包括直肠肾周脂肪,20%包括固有肌层。最常见的微卫星扩增是BAT26(100%),最低的是D17S2720(85.4%)。16例患者(42%)为MSI,其中10例为癌,2例低级别腺瘤,4例高级别腺瘤。22例(68%)显示微卫星稳定(MSS)。微卫星标志物的等位基因缺失在癌病例与腺瘤病例中具有统计学意义。最常见的微卫星扩增是BAT26(100%),较低的是D17S2720(85.4%),16例患者(42%)有微卫星不稳定性(MSI),其中10例为癌,2例低级别腺瘤,4例高级别腺瘤,22例(58%)为微卫星稳定(MSS)。 结论:微卫星不稳定性(MSI-H)与直肠癌显著相关,证实其可作为结直肠癌发生中的预后标志物。
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