摘要
目的在形态学基础上开展更加灵敏准确的体液肿瘤细胞基因变异临床应用转化项目。方法常规形态学诊断后,应用多重荧光PCR、基因测序和FISH法分别检测尿液细胞DNA微卫星的不稳定性(microsatellite instability,MSI)和缺失、胸/腹水癌细胞表皮生长因子受体(EGFR)基因突变。结果29例尿液样本中的10例泌尿系肿瘤患者有4个低度MSI,5个高度MSI,1例为正常,1例膀胱癌尿液发现P16缺失/CSP17三体;诊断阳性敏感度达90%。而7例膀胱癌术后尿液复查患者,9例泌尿系统炎症,血尿和膀胱异型增生患者及3例正常体检者中仅发现一例微卫星不稳定现象,阴性特异性达95%。30例肺癌患者的胸/腹水细胞中有3例分别检测出EGFR基因第19外显子746-750del缺失1例,752-759del缺失1例,18外显子281del缺失1例及c-kit基因第11外显子558-565del缺失1例。结论应用多重PCR,FISH和基因测序法检测体液肿瘤细胞的基因突变缺失及DNA微卫星的不稳定性,可早期确诊和提高体液癌细胞阳性率(90%),细胞HE染色后也可进行微卫星和基因测序检测,适于晚期肿瘤胸腹水和膀胱癌治疗后复查,是无创性的诊断高度敏感特异的分子病理临床应用新项目。
Objective To establish a scientific and new accurate technologic way that detects tumor cells in patients＇ body fluid. Methods Using gene analysor to detect EGFR gene mutation in patients＇ pleural fluid or ascites cells and microsatellite instability in urine cells. Results There are 3 patients with the EGFR exon 18, 19 deletions and l patients with the c-kit gene mutation, were founded out from the 30 lung cancer patients. There are 4 low microsatellite instability, 5 high microsatellite instability, and 1 normal microsatellite stability among 10 urinary system cancer patients; only one low microsatellite instability was founded among 7 post-operated bladder cancer follow up patients, 9 urinary system inflammation and dysplasia patients, and 3 medical examination normal persons. Conclusion Using gene sequencing and multipolymerase chain reaction to detect gene mutation and MSI of tumor cells in patients＇ body fluid is a harmless accurate diagnostic and screening technology. That is especially fit for advanced stage patients whose tumor tissue can＇t be acquired.
出处
《临床医学工程》
2009年第11期14-16,共3页
Clinical Medicine & Engineering
关键词
基因检测
微卫星不稳定
EGFR
尿
胸腹水
genetic test
microsatellite instability
EGFR
Urine
pleural fluid and ascites
