Abstract
Introduction:Increasing knowledge about the molecular profile of tumors has led to personalized treatment for achieving better outcomes in patients with nonsmall cell lung cancer (NSCLC). Currently, finding exact somatic genomic changes of tumor has gained great importance. On the other hand, crescendoing needs to actual tumor tissue at different time points during cancer treatment may produce major discomfort for NSCLC patients. Tumor genomes can be reconstructed by information obtained from circulating cell-free deoxyribonucleic acid (cfDNA) of peripheral blood. cfDNA may be represented as a suitable alternative test for epidermal growth factor receptor (EGFR) mutation detection in these patients. This study aimed to assess validity of cfDNA in somatic EGFR mutation identification in Iranian NSCLC cases. Methods:Somatic mutation of EGFR gene was studied in both tissue specimens and plasma. Then, mutations were detected by polymerase chain reaction(PCR) and sequencing. Results:We observed a high concordance (90%) between tissue samples and cfDNA for EGFR gene mutation. The sensitivity, accuracy, and positive precision value were 90%, 90% and 100%, respectively. A false negative rate of 10% was also demonstrated in this study. Conclusion:We established sensitive methods for detecting EGFR gene mutation which may be very useful in clinical practice.
Highlights
Lung cancer has been known as the most leading cause of cancer-related deaths worldwide (Siegel et al, 2013), ranking second and fifth in terms of mortality in Iranian men and women, respectively(Amirkhah et al, 2017)
We aimed to present our data on the validation of cell-free deoxyribonucleic acid (cfDNA) as a diagnostic approach for screening somatic mutations or hotspot mutations in epidermal growth factor receptor (EGFR) gene among non-small cell lung cancer (NSCLC) patients
One patient received Erlotinib as second line systemic chemotherapy after Pemetrexed and Carboplatin, but the rest of the patients were treated with Erlotinib as the first line
Summary
Lung cancer has been known as the most leading cause of cancer-related deaths worldwide (Siegel et al, 2013), ranking second and fifth in terms of mortality in Iranian men and women, respectively(Amirkhah et al, 2017). Appropriate personalized treatment, and serial response evaluation can improve lung cancer outcomes. Several genetic alterations, including gene amplifications and driver mutations in NSCLC have been studied and implicated for diagnosis, treatment selection, response monitoring, and prediction of prognosis (Ludovini et al, 2011). One of the most known and important mutations in NSCLC, especially adenocarcinoma, is epidermal growth factor receptor (EGFR) gene mutations. The most important part of EGFR is a kinase domain that binds to specific ligands and transfers signals which promote normal cell proliferation. The identification of EGFR gene mutations has a crucial role to improve lung cancer prognosis; whereas, several specific treatments with tyrosine kinase inhibitors (TKIs) are available with brilliant and dramatic
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