Carcinogenesis, Teratogenesis & Mutagenesis ›› 2016, Vol. 28 ›› Issue (1): 27-31.doi: 10.3969/j.issn.1004-616x.2016.01.006

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Detection of EGFR gene mutation in non-small cell lung cancer and its clinical significance

WU Juan, DU Yun, WANG Heng, WU Jianing, ZHAO Yinhuan, WANG Rui, ZHANG Yan, JI Xiaokun   

  1. Cancer Detection Center of the Fourth Affiliated Hospital of Hebei Medical University, Shijiazhuang 050011, Hebei, China
  • Received:2015-06-01 Revised:2015-10-28 Online:2016-01-31 Published:2016-01-31

Abstract: OBJECTIVE: To investigate the clinical value of cytological specimens in the diagnosis and the individualized treatment of non-small cell lung cancer(NSCLC). METHODS: Cytological specimens were stained with HE and with immunocytochemical method to detect expression of an appropriate set of antibodies (TTF-1 NapsinA,CK7,CEA,CD56,Syn,P63,CK5/6,WT-1,E-cadherin),in tumor cells of unknown origin. The epidermal growth factor receptor(EGFR) gene was detected by the amplification refractory mutation system(ARMS) in NSCLC. RESULTS: In 352 patients,345 cases were found cancer cells on the cytological specimens.According to the clinical history and immunocytochemical staining of the 345 malignant cases,335 were NSCLC cytological samples,and the DNA of 302 NSCLC samples were extracted successfully (satisfaction rate at 90.15%). EGFR mutations were detected in 123 of the 302 specimens (40.73%,123/302) and the frequencies of EGFR mutations in exon18,19,20(T790M),21 were 0.99% (3/302) 19.21%(58/302),0.66%(2/302) and 19.87% (60/302),respectively. Higher frequencies of EGFR mutations were detected in exons 18,19 and 21(98.37%,121/123) than in exon 20(P<0.05). EGFR mutations were more frequently detected in women(54.35%,75/138) than in men (29.27%,48/164)(P<0.05),and in non-smokers (51.49%,104/202) than in smokers 19%(19/100)(P<0.05). Mutations were identified in 44.20%(122/276) cases of adenocarcinoma and 4.34%(1/23) in nonadenocarcinoma. Mutation of EGFR gene in adenocarcinoma was higher than that in non-adenocarcinoma(P<0.05). CONCLUSION: The use of cytological specimens in combination with immuno-cytochemical staining and molecular techniques helps in the diagnosis of advanced cancer and individualized treatment option of NSCLC.

Key words: cytological specimens, immunocytochemical, non-small cell lung cancer, amplification refractory mutation system, EGFR gene mutation detection

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