Mutational Analysis of EGFR Mutations in Non-Small Cell Lung Carcinoma—An Indian Perspective of 212 Patients

Amrit Kaur Kaler (), Khushi Patel, Harshali Patil, Yash Tiwarekar, Bijal Kulkarni, Meenal Hastak, Nivetha Athikari, Samrudhi Rane, Ankita Nikam, Smita Umarji, Imran Shaikh, Sandeep Goyle and Rajesh Mistry
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Amrit Kaur Kaler: Department of Molecular Pathology and Genomics, Kokilaben Dhirubhai Ambani Hospital, Mumbai 400053, India
Khushi Patel: Department of Molecular Pathology and Genomics, Kokilaben Dhirubhai Ambani Hospital, Mumbai 400053, India
Harshali Patil: Department of Molecular Pathology and Genomics, Kokilaben Dhirubhai Ambani Hospital, Mumbai 400053, India
Yash Tiwarekar: Department of Molecular Pathology and Genomics, Kokilaben Dhirubhai Ambani Hospital, Mumbai 400053, India
Bijal Kulkarni: Department of Pathology, Kokilaben Dhirubhai Ambani Hospital, Mumbai 400053, India
Meenal Hastak: Department of Pathology, Kokilaben Dhirubhai Ambani Hospital, Mumbai 400053, India
Nivetha Athikari: Department of Pathology, Kokilaben Dhirubhai Ambani Hospital, Mumbai 400053, India
Samrudhi Rane: Department of Molecular Pathology and Genomics, Kokilaben Dhirubhai Ambani Hospital, Mumbai 400053, India
Ankita Nikam: Department of Molecular Pathology and Genomics, Kokilaben Dhirubhai Ambani Hospital, Mumbai 400053, India
Smita Umarji: Department of Molecular Pathology and Genomics, Kokilaben Dhirubhai Ambani Hospital, Mumbai 400053, India
Imran Shaikh: Department of Oncology, Kokilaben Dhirubhai Ambani Hospital, Mumbai 400053, India
Sandeep Goyle: Department of Oncology, Kokilaben Dhirubhai Ambani Hospital, Mumbai 400053, India
Rajesh Mistry: Department of Oncology, Kokilaben Dhirubhai Ambani Hospital, Mumbai 400053, India

IJERPH, 2022, vol. 20, issue 1, 1-11

Abstract: Lung cancer is the world’s leading cause of cancer-related deaths. Epidermal growth factor receptor (EGFR) is one of the critical oncogenes and plays a significant role in tumor proliferation and metastasis. Patients with sensitizing mutations in the EGFR gene have better clinical outcomes when treated with tyrosine kinase inhibitors (TKI). This study expands our knowledge of the spectrum of EGFR mutations among lung cancer patients in the Indian scenario. This is a retrospective descriptive study of all newly diagnosed patients with lung cancer in tertiary care hospital in India. All the samples were subjected to real-time PCR (q-PCR) analysis and confirmation of rare novel mutations was done using Sanger sequencing. Clinicopathological characteristics, mutational EGFR status, and location on the exon and metastatic sites were evaluated. An analysis of total 212 samples showed mutations in 38.67% of cases. Among these, five (5.9%) samples had mutations in exon 18, 41 (48.8%) samples had mutations in exon 19, 12 (14.28%) samples had mutations in exon 20, and 26 (30.95%) samples had mutations in exon 21. Eleven (13.41%) were found to be uncommon EGFR mutations. Additionally, six (21.4%) samples that had EGFR mutations were also positive for brain metastasis. Future testing on bigger panels will help to characterize the incidence of genetic mutations and to determine the appropriate targeted treatment choices for NSCLC patients.

Keywords: non-small cell lung carcinoma; EGFR; pathogenicity; exons; squamous cell carcinomas; adenosquamous carcinomas; sarcomatoid carcinomas; large cell carcinoma; metastasis (search for similar items in EconPapers)
JEL-codes: I I1 I3 Q Q5 (search for similar items in EconPapers)
Date: 2022
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