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Case Report


            EGFR mutation -- a commonly neglected mutation in squamous cell
            lung carcinoma

            Rajeev Saini, Ullas Batra, Akhil Jain, Chaturbhuj Agrawal
            Department of Medical Oncology, Rajiv Gandhi Cancer Institute and Research Centre, Sector 5, Rohini, New Delhi 110085, India.
            Correspondence to: Dr. Rajeev Saini, Department of Medical Oncology, Rajiv Gandhi Cancer Institute and Research Centre, Sector 5, Rohini,
            New Delhi 110085, India. E-mail: rajeev.rajeev7@gmail.com

                                                     A B S T R AC T
             Lung cancer is the leading cause of cancer-related death worldwide. Advances in molecular biology have unveiled various
             targetable mutations with epidermal growth factor receptor (EGFR) being most common.  EGFR testing is recommended for all
             locally advanced or metastatic adenocarcinoma lungs but recommendation in squamous histology is uncertain. However, just
             on the basis of histology, EGFR testing should not be withheld in patients diagnosed as squamous cell cancer on small biopsy,
             in females, never smokers and Asians. We report two cases with squamous cell lung cancer diagnosed on small biopsy, in non
             smoker females with EGFR mutations emphasizing the importance of testing in such population.

             Key words: Epidermal growth factor receptor mutation; squamous cell lung carcinoma; never smoker; small biopsy


            INTRODUCTION                                      tomography-computed  tomography  revealed  right  lung
                                                              mass with mediastinal  lymph nodes, brain, adrenal,
            Lung cancer is the most common cancer in the world   pancreatic and bone lesions. A core needle biopsy from
            accounting  for 12.9% of total  cases and 19.4% of total   lung mass revealed squamous cell carcinoma, p40 positive
            cancer related mortality.  Advances in molecular biology   and thyroid transcription factor (TTF) negative [Figure 1].
                                [1]
            have  led  to  the  identification  of  mutations  within  the   In view of symptomatic brain metastasis, she was treated
            epidermal growth factor receptor (EGFR), and the finding   with whole brain radiotherapy  followed by two cycles
            that these mutations make tumors exquisitely sensitive to   of gemcitabine and carboplatin based chemotherapy.
            EGFR tyrosine kinase inhibitors (TKIs), has revolutionized   However, in view of poor tolerability  due to grade  4
            treatment of non-small cell lung cancer (NSCLC). EGFR   neutropenia  and  poor performance  status,  chemotherapy
            mutations are more common in never-smokers, in patients   could not be given. Her biopsy was reassessed for EGFR
            with Asian ethnicity, and in patients with adenocarcinoma   mutational analysis and showed L858R mutation positive.
            histology.  However, solely on the basis of histology,   She was started on erlotinib and imaging studies after 2
                    [2]
            EGFR testing should not be excluded in patients  with   months of therapy demonstrated significant tumor response
            squamous cell cancer, especially females, never smokers,   in the pulmonary lesions and in the metastatic sites.
            Asian  ethinicity  and  squamous histology  diagnosed  on
            small  biopsy as adenocarcinomatous  component  cannot   Case 2
            be ruled out on small biopsy specimens.  We present two   A 44-year-old female, diabetic, hypertensive, non smoker
                                             [3]
            cases of squamous cell lung cancer diagnosed on small   presented with history of breathlessness. Bronchoscopy
            biopsy in non smoker females with EGFR mutations who   showed malignant  intermediate  bronchus obstruction.
            benefitted with oral TKIs.                        Bronchial  biopsy revealed  squamous cell  carcinoma
                                                              expresses p40 [Figure 2] but negative for TTF1. In view
            CASE REPORT                                       of her being non smoker EGFR mutation was tested and
                                                              was positive for exon 21L858R mutation. After 3 cycles of
            Case 1                                            gemcitabine and cisplatin based chemotherapy there was
            A 56-year-old female, diabetic, hypertensive, non smoker   partial response and now she was on maintenance erlotinib
            presented with history of cough, weight loss and right sided   with good disease control.
            weakness. Magnetic resonance imaging brain showed two
            hypodense lesions in left frontal lobe. Positron emission   This is an open access article distributed under the terms of the Creative
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                                                               How to cite this article: Saini R, Batra U, Jain A, Agrawal C. EGFR
                                                               mutation -- a commonly neglected mutation in squamous cell lung
                                  DOI:                         carcinoma. J Cancer Metastasis Treat 2016;2:253-4.
                                  10.20517/2394-4722.2016.07
                                                               Received: 03-02-2016; Accepted: 10-05-2016.
                        ©2016 Journal of Cancer Metastasis and Treatment ¦ Published by OAE Publishing Inc.  253
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