alexa The Importance of EGFR Mutation Detection Method for th
ISSN: 2161-0681

Journal of Clinical & Experimental Pathology
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Case Report

The Importance of EGFR Mutation Detection Method for the Correct Clinical Management of Patients with Non-Small Cell Lung Cancer: A Case Report

Zizzi A1*, Barbisan F1, Laici G2, Postacchini E1, Biagiotti L1, Tozzo S1, Mei F3 and Scarpelli M1

1Department of Biomedical Sciences and Public Health, Pathologic Anatomy and Histopathology Division, Azienda Ospedaliero-Universitaria Ospedali Riuniti, Ancona, Italy

2Medical Oncology Unit, S. Croce Hospital, Fano, Italy

3Department of Immunoallergic and Respiratory Diseases, Pulmonary Diseases Unit, Azienda Ospedaliero-Universitaria Ospedali Riuniti, Ancona, Italy

*Corresponding Author:
Antonio Zizzi
Department of Biomedical Sciences and Public Health
Pathologic Anatomy and Histopathology Division
AOU Ospedali Riuniti, Via Conca, 71–Ancona, Italy
Tel: +395964825
Fax: +390715964809
E-mail: [email protected]

Received date: March 09, 2017; Accepted date: March 14, 2017; Published date: March 17, 2017

Citation: Zizzi A, Barbisan F, Laici G, Postacchini E, Biagiotti L, et al. (2017) The Importance of EGFR Mutation Detection Method for the Correct Clinical Management of Patients with Non-Small Cell Lung Cancer: A Case Report. J Clin Exp Pathol 7:305. doi: 10.4172/2161-0681.1000305

Copyright: © 2017 Zizzi A, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.



In patients with non-small cell lung cancer (NSCLC), the naïve double EGFR mutation of exon 18 represents an unusual event and the few papers in the literature demonstrated the attenuated response to different tyrosine kinase inhibitors (TKIs). We presented a case of a 73-year-old female smoker patient with adenocarcinoma in the right upper lung lobe diagnosed in another Italian Hospital Center and the first molecular analysis, performed by the pyrosequencing platform in a cytological smear, identified a G719A mutation of EGFR gene. The patient was immediately treated with afatinib at a daily dose of 40 mg as TKI. During the normal follow up it was noted a partial response (PR) to treatment and, a new Computer Tomography, revealed the presence of an abnormal shadow in the right lower lung. A new Transbronchial Needle Aspiration (TBNA) and the consequent cyto-histological diagnosis revealed a relapse of the disease. A new molecular analysis made in our Center with Sequenom platform, showed a double EGFR mutation (G719A+E709A), both of exon 18. We also tested the EGFR with Sequenom platform in the cytological smear used for the first diagnosis, kindly sent us by Pathological Anatomy Unit of the Hospital Center, revealing both the double EGFR mutation G719A+E709A. Therefore, both mutations were the naïve double EGFR mutation of exon 18.

This result explained the PR to afatinib treatment and highlighted the importance of multiplex and sensitive methods used to identify the correct EGFR activating mutations in NSCLC, on the right clinical management of these patients.


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