Detection of rare targetable EGFR variant in
Metastatic Non-small Cell Lung Carcinoma by
next Generation Sequencing: A Case Report
Published: June 1, 2020 | DOI: https://doi.org/10.7860/JCDR/2020/44270.13759
Anurag Mehta
, Ullas Batra
, Mansi Sharma
, Sanjeev Sharma
, Shrinidhi Nathany
1. Head and Director Laboratory Services and Research, Department of Molecular Diagnostics, Pathology, Rajiv Gandhi Cancer Institute and Research Center, New Delhi, India.
2. Senior Consultant, Department of Medical Oncology, Rajiv Gandhi Cancer Institute and Research Center, New Delhi, India.
3. Consultant, Department of Medical Oncology, Rajiv Gandhi Cancer Institute and Research Center, New Delhi, India.
4. Scientist C, Molecular Diagnostics, Rajiv Gandhi Cancer Institute and Research Center, New Delhi, India.
5. Senior Resident, Department of Molecular Diagnostics, Rajiv Gandhi Cancer Institute and Research Center, New Delhi, India.
Correspondence
Shrinidhi Nathany,
RGCI&RC, Sir Chotu Ram Marg, Sector 5, Rohini, New Delhi, India.
E-mail: drshrinidhinathany@gmail.com
Single gene assays for variants in Epidermal Growth Factor Receptor (EGFR) demonstrate actionable and sensitising mutations in majority of the cases. However, the emergence of next generation sequencing platforms has facilitated the detection of newer variants in the already known drivers of lung carcinomas, which may be clinically actionable. Mutations in exons 18 to 21 of EGFR are widely characterised in literature, and rare unusual mutations in these regions are constantly being demonstrated recently. This report describes a rare exon 18 insertion variant in EGFR gene in a 61-year-old patient of non-small cell lung carcinoma, which is potentially actionable, thus highlighting the need of next generation sequencing based platforms in this era of precision medicine.
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