EGFR Mutation Analysis in Non-small Cell Lung Carcinoma Patients: A Liquid Biopsy Approach

  • Jigna Joshi
  • Apexa Raval
  • Urja Desai
  • Vinal Upadhyay
  • Mansi Bhavsar
  • Kanisha Shah
  • Rakesh Rawal
  • Harsha Panchal
  • Franky ShahEmail author
Original Research Article


In the era of the targeted therapy identification of EGFR mutation detection in lung cancer is extremely helpful to predict the treatment efficacy of EGFR tyrosine kinase inhibitors (TKIs). Unfortunately, the inadequacy and quality of the biopsy samples are the major obstacles in molecular testing of EGFR mutation in lung cancer. To address this issue, the present study intended to use liquid biopsy as the non-invasive method for EGFR mutation detection. A total of 31 patients with an advanced stage of lung cancer were enrolled in the study from which cell-free DNA (cfDNA) and FFPE tissue DNA was extracted. Extracted DNA samples were analyzed for further EGFR exon specific mutation analysis by ARMS-PCR. Data were analyzed statistically using SPSS software. In cfDNA samples, the prevalence of wild type EGFR was 48% while the prevalence of TKI resistant and TKI sensitive mutations were 3%. Conversely, in tissue DNA samples, the prevalence of wild type, TKI sensitive and TKI resistant mutations were 48%, 19%, and 3%, respectively. The overall concordance of EGFR mutation between cfDNA and tissue DNA was 83%. McNemar’s test revealed that there was no significant difference between EGFR expression of cfDNA and tissue DNA samples. Additionally, the significant-high incidence of TKI resistant mutations was observed in tobacco habituates, indicating the role of carcinogens present in the tobacco in developing resistant mutations. In conclusion, our data suggest that evaluation of EGFR mutation from cfDNA samples is practicable as a non-invasive tool in patients with advanced-stage of lung cancer.


ARMS real-time PCR Cell-free DNA EGFR mutation Non-small cell lung cancer 



The study has been financially supported by The Gujarat Cancer & Research Institute/The Gujarat Cancer Society.


The Gujarat Cancer Society/The Gujarat Cancer & Research Institute (RE/74/MO/14).

Compliance with Ethical Standards

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional review committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed consent

Informed consent was obtained from all individual participants included in the study.


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Copyright information

© Association of Clinical Biochemists of India 2019

Authors and Affiliations

  1. 1.Stem Cell Biology Lab, Department of Cancer BiologyGujarat Cancer and Research InstituteAhmedabadIndia
  2. 2.Medicinal Chemistry and Pharmacogenomics Division, Department of Cancer BiologyGujarat Cancer and Research InstituteAhmedabadIndia
  3. 3.Medical Oncology DepartmentThe Gujarat Cancer & Research InstituteAhmedabadIndia

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