痰液脱落细胞FHIT基因检测在肺癌早期诊断中的评价.docVIP

痰液脱落细胞FHIT基因检测在肺癌早期诊断中的评价 　　作者：庄鹏晖，蒋晓刚，潘承恩，尚东 作者单位：西安交通大学医学院：1. 第一附属医院胸外科;2. 遗传与分子生物学系;3. 第一附属医院老年外科;4. 第一附属医院呼吸内科，陕西西安 710061 　　【摘要】目的 通过检测痰液脱落细胞FHIT基因微卫星不稳定性(microsatellite instability, MSI)和杂合性缺失(loss of heterozygosity, LOH)，评价FHIT基因检测在肺癌早期诊断中的敏感性，探讨肺癌筛查的有效方法。方法 以液基细胞学为基础，采集并分离高危人群痰液脱落细胞，提取DNA，检测FHIT基因MSI和LOH。结果 在肺癌患者中出现MSI或LOH异常的阳性率在41.6%～49.5%之间，以D3S1300最高，达到49.5%，3个位点中至少1个位点出现微卫星异常为72.3%(n=73)，至少2个位点出现微卫星异常为45.5%(n=46)。统计学分析表明，FHIT基因出现MSI或LOH在肺癌和非肺癌患者中的差异有统计学意义(P0.05)。结论 以液基细胞学为基础，检测痰液脱落细胞FHIT基因的MSI和LOH可以作为肺癌早期诊断的新途径。不同微卫星位点出现异常表现的具体形式有所不同，多位点联合检测可以提高诊断的敏感性和特异性。 　　【关键词】 液基细胞学 痰液标本 微卫星不稳定性 杂合性缺失 肺癌诊断 　　Evaluation of FHIT gene detection for early diagnosis　lung cancer in sputum specimen 　　ZHUANG Penghui, JIANG Xiaogang, PAN Chengen, SHANG Dong 　　1. Department of Thoracic Surgery, the First Affiliated Hospital, Medical School of 　　Xian Jiaotong University; 2. Department of Genetics and Molecular Biology, Medical School of 　　Xian Jiaotong University; 3. Department of Geratic Surgery, the First Affiliated Hospital, 　　Medical School of Xian Jiaotong University, 4. Department of Respiration,the First Affiliated Hospital, Medical School of Xian Jiaotong University Xian 710061, China 　　ABSTRACT: Objective By detecting microsatellite instability (MSI) and loss of heterozygosity (LOH) in FHIT gene in sputum specimen, we intended to evaluate the sensitivity of FHIT gene detection to early diagnosis of lung cancer and explore effective method to screen lung cancer. Methods Based on liquidbased cytology, we collected and isolated sputum specimens in high risk group, abstracted DNA, and detected MSI and LOH in FHIT gene. Results The positive rate of MSI or LOH at single locus was between 41.6% and 49.5%; the site D3S1300 was the highest and it was 49.5%. At least 1 site out of 3 sites that had abnormal microsatellite accounted for 72.3% in lung cancer patients, two sites that appeared to change accounted for 45.5%, which was si