Detection of epidermal growth factor receptor mutation in the peripheral blood of patients with esophageal carcinoma to guide epidermal growth factor receptor-tyrosine kinase inhibitor treatment.

Abstract

This study aimed to explore the epidermal growth factor receptor (EGFR) mutation in the peripheral blood of patients with esophageal carcinoma and analyze the relationship between EGFR-tyrosine kinase inhibitor (EGFR-TKI) therapeutic effect and EGFR mutation in peripheral blood. A retrospective analysis was performed on 66 patients with esophageal carcinoma treated with EGFR-TKI (Gefitinib) from February 2014 to March 2017 in our hospital. Real-time polymerase chain reaction was applied to detect the mutation of the EGFR gene in peripheral blood specimens before patients were treated with EGFR-TKI. The relationship between EGFR mutation in the peripheral blood and clinical features of patients were analyzed. The correlation between EGFR mutation in peripheral blood and EGFR-TKI treatment response was also demonstrated. Among the 66 patients, 18 cases were determined as EGFR mutation in peripheral blood. The mutation rate was 27.3%. Among these patients, it observed 1 case of exon 18 2155G>A mutation, 3 cases of exon 19 2235-2249Del mutation, 5 cases of 2236-2250Del mutation, 1 case of 2254-2277Del mutation, 1 case of L747-A750Del mutation, 3 cases of exon 21 2576T>G mutation, 3 cases of 2497T>G mutation, and 1 case of 2504A>T mutation. EGFR mutation in the peripheral blood of patients with esophageal carcinoma was unrelated to the gender, age, and the location of the tumor (P < 0.05). By contrast, EGFR mutation was related to the pathological types of the patients (P < 0.05). The mutation rate of the EGFR of squamous cell carcinoma patients was significantly higher than that of adenocarcinoma patients (P < 0.05). Among EGFR wild-type patients, 8 cases were stable disease (SD), and 40 cases were progressive disease (PD), after EGFR-TIK treatment. No complete response (CR) and partial response (PR) patients were reported. The overall response rate (ORR) was 0.0%. Among the EGFR mutation group, 5 were SD cases, 5 were PD cases, and 8 were PR cases. No CR case was reported. The ORR was 44.4%. The ORR of the EGFR group was significantly higher than that of the wild-type group (P < 0.05). The detection of EGFR mutation in peripheral blood can be applied as an effective index for EGFR-TKI (Gefitinib) treatment in patients with esophageal carcinoma.