Epidermal Growth Factor Receptor (EGFR) Gene Mutation Analysis in Adenocarcinoma of Lung, the First Report from Iran (original) (raw)
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Cancer Epidemiology, 2015
Background: Epidermal growth factor receptor (EGFR) represents an important molecular target in the treatment of lung adenocarcinomas; many anti-EGFR therapies are approved as first line and second-line treatment in patients having metastatic lung adenocarcinomas. The occurrence of this mutation varies in terms of race; it is around 10% in Caucasians and can reach 30% in Asians. Its prevalence in our Middle Eastern region is not well known. Methods: Patients diagnosed with non-squamous non-small cell lung carcinomas between March 2013 and March 2015 were included. This study was conducted at Hôtel-Dieu de France University Hospital, a tertiary medical center in Lebanon. EFGR mutations were analyzed using real time PCR technique on the Rotor-Gene Q using Scorpions and ARMS technologies. The following data was collected: the patients' characteristics (age, gender, smoking status, stage), the samples' characteristics (histology subtype, TTF-1 and Napsin A immunostainings, the site and the adequacy and the type of the sample), and the mutational EGFR status (presence and type of mutation). These variables were analyzed using SPSS 20. Results: 201 patients were included. The mean age was 65.2 years [31-87]; 40.2% were females. 78.1% of the included patients were smokers or ex-smokers. 12.9% of patients had a localized disease, 17.4% a locally advanced disease and 69.7% a metastatic disease. Adenocarcinoma was the main histologic subtype found in 90.5% of patients, followed by large cell carcinoma (3.5%), adenosquamous carcinoma (3.0%) and non-small cell carcinoma not otherwise specified (3.0%). 11.9% of patients had an EGFR mutation: 48% of them presented a deletion on exon 19, 40.0% a L858R mutation on exon 21, 4.0% a G719X mutation in exon 18, 4.0% an insertion in exon 20, and 4% a T790M mutation in exon 20. The presence of an EGFR mutation was significantly associated with the female gender (two-third) (p < 0.05) and the nonsmoking status (two-third) (p < 0.05). Conclusions: The prevalence of EGFR mutation (11.9%) detected in our Lebanese population is similar to that observed in the Caucasian population. This mutation is also significantly more frequent in females and non-smokers. 2015 Elsevier Ltd. All rights reserved.
Frequency of EGFR Mutations in 907 Lung Adenocarcioma Patients of Indian Ethnicity
PLoS ONE, 2013
Background: During the past decade, the incidence of EGFR mutation has been shown to vary across different ethnicities. It occurs at the rate of 10-15% in North Americans and Europeans, 19% in African-Americans, 20-30% in various East Asian series including Chinese, Koreans, and Japanese. Frequency of EGFR mutations in India however remains sparsely explored.
The Profile of Lung Adenocarcinoma Patients with Positive EGFR Mutation
Green Medical Journal, 2020
Background: The high mortality rate in pulmonary carcinoma is a problem encountered in various countries, including Indonesia. According to WHO, there are 2.09 million people affected by lung cancer and 1.76 million deaths due to lung cancer worldwide. This study was aimed to determine the profile of lung adenocarcinoma patients with positive EGFR mutation. Methods: The study was descriptive study with cross-sectional approach using secondary data obtained from medical records of lung adenocarcinoma patients. Results: The present study revealed that lung adenocarcinoma was found higher in patients with age >40 years old (93.9%) compared to those with age <40 years old. It was also higher in male (66.7%) than in female patients. Most patient with lung adenocarcinoma were at the IIIB stage (42.4%). It was also reported that higher cases was found in patients with history of smoking more than 15 years (42.4%). Hemoptoe was the most reported clinical symptoms in patients with lung...
Analysis of EGFR gene mutations in lung adenocarcinoma in Karamay, Xinjiang, China
Oncology and Translational Medicine, 2023
Background: To investigate the mutation types and mutation rate of the epidermal growth factor receptor (EGFR) gene in patients with lung adenocarcinoma and the clinical features of lung adenocarcinoma with EGFR gene mutations in Karamay, Xinjiang, China. Methods: Paraffin-embedded tissue samples of adenocarcinoma patients were collected in the Karamay Central Hospital from March 2016 to June 2019, and mutations in exon 18-21 of the EGFR gene were detected by the allele-specific amplification polymerase chain reaction (Amplification Refractory Mutation System-PCR) method. The relationships between the mutation types, mutation incidence, and clinical features were analyzed. Results: Of the 170 patients with lung adenocarcinoma, 83 had EGFR mutations. The total mutation rate of EGFR in patients with lung adenocarcinoma was 48.8%, which included mutations in exons 18 (1.2% [2/170]), 19 (19.4% [33/170]), 20 (2.4% [4/170]), and 21 (20.6% [35/170]). Intriguingly, there was a case with 9 mutations in exons 20 and 21. The mutations in exon 19 of EGFR resulted in the deletion of codons 746 to 750. The main mutation in exon 21 was L858R (91.4% [32/35]). There was no significant difference in exons 19 and 21 mutation rates (P > 0.05). The mutation rate of EGFR in female patients was significantly higher than that in male patients (P < 0.05) but had no correlation with the age, smoking status, and clinical stage of patients with non-small cell lung cancer (P > 0.05). The EGFR mutation rate may be related to the degree of tumor differentiation. Conclusions: Among patients with lung adenocarcinoma in Kelamayi (city in Xinjiang), EGFR mutations were more frequently detected in female patients, and the main sites of mutations were exons 19 and 21.
Epidermal Growth Factor Receptor Mutations in Lung Adenocarcinoma in Malaysian Patients
Journal of Thoracic Oncology, 2013
Introduction: Despite available data from other Asian countries, the prevalence of epidermal growth factor receptor (EGFR) mutations among lung adenocarcinoma patients has not been reported in Malaysia. This study sought to determine the frequency of EGFR mutations among multiethnic Malaysian patients diagnosed with lung adenocarcinoma. Methods: Demographic and clinical information of patients whose lung adenocarcinoma biopsy specimens were submitted for EGFR mutation testing at Sime Darby Medical Center from 2009 to 2011 were analyzed. EGFR mutations at exons 18, 19, 20, and 21 were detected either through bidirectional sequencing or real-time polymerase chain reaction. Results: Among 812 patients in the study, 49% were female, 63.7% were ethnic Chinese, 29.4% Malay, 4.8% Indian, and 2.1% other ethnic groups. Mutations were present in the tumors of 321 patients (39.5%), with mutations at exons 19 (23.5%) and 21 (14.9%) being the most common. Mutations were significantly more frequent among women than in men (52.5% versus 27.8%, p < 0.001). Although mutations were more common among Chinese (40.8%) compared with Malay (37.2%) or Indian (33.3%) patients, the difference was not statistically significant (p = 0.591). Of 211 patients with smoking history records, never-smokers had a higher mutation rate compared with ever-smokers (54.8% versus 20.7%, p < 0.001). Conclusion: EGFR mutations were present in 39.5% of patients. Mutations were more common in women and never-smokers with no differences in mutation frequency between different ethnicities. Because of the high mutation rates, reflex testing for EGFR mutation should be a routine practice for advanced lung adenocarcinoma patients in Malaysia.
Annals of Pathology and Laboratory Medicine, 2017
Background: Epidermal growth factor receptor (EGFR) mutations have been known to be associated with adenocarcinoma, women, non-smokers and East-Asian ethnicity. This study was aimed to characterize the frequency of EGFR mutations and their association with histologic subtypes in primary lung adenocarcinoma in an Indian cohort. Methods: Two seventy-four cases were categorized using 2015 WHO classification of lung tumors. The frequency of each histologic subtype and cell type was correlated with EGFR exon sequences in a subset of 120 cases using polymerase chain reaction (PCR) gene sequencing. Results: The predominant biopsy categories in 274 cases were acinar 167(61%), solid 63(23%), mucinous 19(7%), lepidic 11(4%) and others 14(5%). EGFR mutations were detected in 49/120 (40.8%) including 3/5(60%) lepidic, 4/9(44.4%) papillary, 29/68(42.7%) acinar, 10/24(41.7%) solid and 1/13(7.7%) mucinous subtypes and were significantly associated with the cuboidal cell type (p=0.01). These mutations were common in women and non-smokers, although not statistically significant. Exon 19 mutations predominated in 36/49(73.4%). The majority, 213/263 (81%), were thyroid transcription factor 1(TTF-1) positive. The polygonal cell type and the solid subtype were frequent amongst stage IV tumors and smokers. Conclusions: EGFR mutations were most frequently seen with the lepidic and papillary subtypes, not associated with the mucinous subtype, more common in women and non-smokers and significantly associated with the cuboidal cell type.
Purpose: The present study aims to describe the differences in the prevalence of EGFR mutation of lung adenocarcinoma between private and public healthcare institutions. Methods: This was a descriptive, observational, retrospective, multicenter study with confirmed diagnosis of non-small cell lung cancer, adenocarcinoma subtype, distributed between two private practice centers and one public healthcare institution. After a pathology review to determine whether there was enough tumor tissue to make a molecular biology study, mutations were determined using real-time PCR for EGFR tyrosine-kinase domain gene. Results: After exclusions a total of 328 patients results for the final analysis. Two hundred thirty-five patients (71.64%) attended a public healthcare institution and ninety-three patients (28.35%) to a private healthcare institution (Table 1). From the public healthcare institution, 113 (34.45%) patients had a positive EGFR mutation, while only 27 patients (8.23%) from the private healthcare institution were positive for an EGFR mutation. When comparing the total number of patients in the study, this difference was statistically significant when comparing public versus private hospitals (p=0.002). Conclusion: We found that there is a statistically significant difference between the frequency of EGFR mutations between populations attending public and private healthcare institutions, probably related to ethnic differences between populations. Despite what has been reported in the present study, these conclusions cannot be generalized and further investigation is needed.
Journal of Thoracic Oncology, 2015
Although classic sensitizing mutations of epidermal growth factor receptor (EGFR) are positive predictive markers for EGFR tyrosine kinase inhibitors (TKIs) in lung adenocarcinoma, there are rare EGFR mutations with unknown epidemiology and influence on prognosis and TKI response. Methods: Eight hundred and fourteen lung adenocarcinoma patients with KRAS and/or EGFR mutation analyses for TKI therapy indication were identified. Six hundred and forty-five patients were included in the epidemiological analysis. The clinical outcome was analyzed in 419 advanced-stage patients with follow-up data. Results: Four hundred and eighty (59%) KRAS/EGFR double wildtype, 216 (27%) KRAS mutant, 42 (5%) classic, 49 (6%) rare, and 27 (3%) synonymous EGFR mutant cases were identified. Twenty previously unpublished nonsynonymous mutations were found. Rare EGFR mutations were significantly associated with smoking (vs. classic EGFR mutations; p = 0.0062). Classic EGFR mutations but not rare ones were independent predictors of increased overall survival (hazard ratios, 0.45; 95% confidence intervals, 0.25-0.82; p = 0.009). TKI therapy response rate of patients harboring classic EGFR mutations was significantly higher (vs. rare EGFR mutations; 71% vs. 37%; p = 0.039). Patients with classic or sensitizing rare (G719x and L861Q) EGFR mutations had significantly longer progression-free survival when compared with the remaining rare mutation cases (12 vs. 6.2 months; p = 0.048).
Iranian Journal of Public Health, 2022
Background: Mutations of the epidermal growth factor receptor (EGFR) gene, predominantly in exons 18-21, have been highlighted to function as the crucial predictors of the response rate of patients with non-small cell lung cancer (NSCLC) to EGFR tyrosine kinase inhibitors (TKIs). Methods: This study was performed at Tehran University of Medical Sciences. Data and information were retrospectively collected from the period between Dec 2010 and Apr 2014. Exons 18 to 21 of the EGFR were analyzed for any potential mutation by PCR, accompanied by DNA sequencing on 160 with pathological confirmation of NSCLC. Results: Demographically, the male to female ratio was approximately 2:1, and a substantial difference in age between sexes was not observed (P=0.065), but a noticeable difference was found in the smoking variable, where 77.8% of males were smokers compared to 17.3% of women (odds ratio (OR) (95% CI) = 16.72 (7.15-39.11)). We found a frequency of 10.63% (17/160) for mutations found in...