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目的:研究食管癌及癌前病变患者血浆中p16和FHIT基因甲基化情况,探讨其对食管早期癌和癌前病变诊断的临床应用价值。方法:应用甲基化特异性聚合酶链反应(methylation-specific PCR,MSP)方法,对食管癌及癌前病变、慢性食管炎患者组织及血浆标本进行了p16和FHIT基因甲基化检测。结果:在44例癌前病变、14例原位癌、37例浸润癌和10例慢性食管炎共105例患者组织DNA中,分别发现18例、11例、24例和1例p16基因甲基化,15例、9例、25例和0例FHIT基因甲基化。癌前病变和慢性食管炎患者血浆中未发现两基因甲基化。51例食管癌患者血浆中共检出14例p16基因和16例FHIT基因甲基化,其中2例为原位癌。结论:p16及FHIT基因甲基化检测有望将食管癌的筛查提前到原位癌阶段,为食管癌的早期发现提供帮助。
Objective: To study the methylation status of p16 and FHIT gene in the plasma of patients with esophageal cancer and precancerous lesions and to explore its clinical value in the diagnosis of early esophageal cancer and precancerous lesions. Methods: Methylation-specific polymerase chain reaction (methylation-specific PCR) was used to detect the methylation of p16 and FHIT gene in esophageal and precancerous lesions and in patients with chronic esophagitis. Results: Totally 18 cases, 11 cases, 24 cases and 1 case of p16 gene were found in 44 cases of precancerous lesions, 14 cases of carcinoma in situ, 37 cases of invasive carcinoma and 10 cases of chronic esophagitis. 15 cases, 9 cases, 25 cases and 0 cases of FHIT gene methylation. Two genes were not found in the plasma of patients with precancerous lesions and chronic esophagitis. A total of 14 cases of p16 gene and 16 cases of FHIT gene methylation were detected in 51 cases of esophageal cancer plasma, of which 2 cases were in situ carcinoma. Conclusion: The detection of methylation of p16 and FHIT genes is expected to advance esophageal cancer screening to the stage of carcinoma in situ, which may be helpful for the early detection of esophageal cancer.