The correlation of clinical pathological features with the expressions of epidermal growth factor receptor gene and echinoderm microtubule-associated protein-like 4-anaplastic lymphoma kinase gene in non-small-cell lung cancer patient

Abstract

Objective To detect the mutation rates of epidermal growth factor receptor(EGFR)gene and echinoderm microtubule-associated protein-like 4(EML4)-anaplastic lymphoma kinase(ALK)gene in non-small-cell lung cancer(NSCLC)patients and to analyze their relation with clinical pathological features. Methods EGFR gene of 119 NSCLC patients and EML4-ALK gene of 53 NSCLC patients were detected using gene mutation detection kits(Taqman-ARMS), and the correlation analysis on their clinical pathological features was taken. Results The total mutation rate of the EGFR gene was 44.5%(53/119), and a single mutation rate of the 18th, 19th, 20th and 21st exons was 1.7%(2/119), 25.2%(30/119), 0.8%(1/119)and 13.4%(16/119)respectively in 119 NSCLC patients.The cases of double mutation among the exons of EGFR gene was 3.4%(4 cases). The total positive rate of the ALK fusion gene was 15.1%(8/53). The case of the positive coexistence between EGFR gene mutation and ALK fusion gene was one(0.8%). And the clinical pathological features indicated that the adenoma was more than non-adenoma, smokers were more than non-smokers, female patients were more than male patients. Conclusions Among the NSCLC patients, a higher mutation rate exists in the mutation of the 19th and 21st exons of the EGFR gene and in the ALK fusion gene.The subtype classification of gene mutation can guide the individualized targeted therapy of precision medicine, and the mutation rate of the double mutation coexistence gene should not be ignored although it is low.In the clinical pathology, the EGFR-and EML4-ALK-positive patients show some same or similar features which are very common in the female, non-smokers and adenoma patients.But they also have some different features: among the EML4-ALK positive patients, the adenoma is often accompanied with the gland acinus structure produced by grume combining with the EGFR mutation at the different time. Key words: Carcinoma, non-small-cell lung; Epidermal growth factor; Mutation; Pathology, clinical