Differences in Epidermal Growth Factor Receptor Gene Mutations and Relationship with Clinicopathological Features in NSCLC Between Uygur and Han Ethnic Groups

Abstract

<br/><b>Objective</b>: To investigate differences in mutations of epidermal growth factor receptor (EGFR) gene andrelationships with clinicopathological features in patients with non-small cell lung cancer (NSCLC) betweenUygur and Han ethnic groups. <br/><b>Methods</b>: The Scorpions amplification refractory mutation system (ScorpionsARMS) was used to measure mutations in exons 18, 19, 20 and 21 of the EGFR gene in paraffin-embedded tumortissue from NSCLC cases, and statistical analysis was performed to investigate links with clinicopathologicalfeatures in different histological types of NSCLC. <br/><b>Results</b>: Results from ARMS testing showed EGFR mutationsin tumor tissues from six (6) of 50 NSCLC patients of Uygur ethnic group, with a positive rate of 12.0%; four ofthem (4) had exon 19 deletion in EGFR, and two (2) had L858R point mutation in exon 21 of EGFR. Statisticallysignificant difference was noted in EGFR genetic mutation between adenocarcinoma and non-adenocarcinoma(P < 0.05), but no differences with gender, age group, smoking status, or stage (P > 0.05). EGFR mutations weredetected in tumor tissues from 27 of 49 NSCLC patients of Han ethnic group , with a positive rate of 55.1%;19 of them had exon 19 deletions, seven (7) had L858R point mutations in exon 21 of EGFR and one (1) hadmutations in both exon 18 G719X and exon 20 T790M of EGFR. Statistically significant differences were notedin EGFR genetic mutations between genders and between adenocarcinoma and non-adenocarcinoma (P<0.05),but not with age group, smoking status, or stage (P > 0.05). <br/><b>Conclusion</b>: Statistically significant differences werenoted in the positive rates of EGFR genetic mutations in NSCLC patients between Uygur and Han ethnic groups,with lower positive rates for the Uygur cases.