A Novel Exon 19 EGFR mutation in a patient with lung adenocarcinoma: A Case Report and Literature Review

Non-small-cell lung cancer (NSCLC) exemplifies how biomarker-driven therapies can alter the natural course of a disease. Clinically significant mutations in the epidermal growth factor receptor (EGFR) in NSCLC include a spectrum of substitutions, deletions, and insertions, mainly affecting exons 18 to 21. The most common EGFR mutations involve exon 19 deletions (19del) or the exon 21 L858R substitution, which are typically sensitive to tyrosine kinase inhibitors (TKIs) such as osimertinib. However, 10% to 20% of patients harbor uncommon EGFR mutations, which exhibit variable responses to TKIs. Notably, some rare exon 19 mutations are often undetectable by conventional polymerase chain reaction (PCR) assays. In this case report, we describe an NSCLC patient with a novel exon 19 EGFR mutation identified by next-generation sequencing (NGS), which was not detected by commercial PCR assays. The patient experienced a modest response to osimertinib. We also provide a review of the current literature regarding these uncommon EGFR mutations.

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Publication Details

Journal
Current Problems in Cancer Case Reports
Published
2025-05-20
DOI
https://doi.org/10.1016/j.cpccr.2025.100374
Primary Topic
Lung Cancer Treatments and Mutations
Type
article
Field-Weighted Citation Impact
0.00

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article

A Novel Exon 19 EGFR mutation in a patient with lung adenocarcinoma: A Case Report and Literature Review

J. Villamayor, Inmaculada Ibañez de Cáceres, Rocío Rosas-Alonso, Rafael Peláez et al.
Current Problems in Cancer Case Reports
Lung Cancer Treatments and Mutations
article

A Novel Exon 19 EGFR mutation in a patient with lung adenocarcinoma: A Case Report and Literature Review

J. Villamayor, Inmaculada Ibañez de Cáceres, Rocío Rosas-Alonso, Rafael Peláez, Patricia Cruz‐Castellanos, Carlos Rodríguez‐Antolín, Laura Gutiérrez-Sainz, Javier de Castro, Alberto Peláez‐García, Carmen Rodríguez‐Jiménez, O. Higuera Gómez, Isabel Esteban Rodríguez
article en

Abstract

Non-small-cell lung cancer (NSCLC) exemplifies how biomarker-driven therapies can alter the natural course of a disease. Clinically significant mutations in the epidermal growth factor receptor (EGFR) in NSCLC include a spectrum of substitutions, deletions, and insertions, mainly affecting exons 18 to 21. The most common EGFR mutations involve exon 19 deletions (19del) or the exon 21 L858R substitution, which are typically sensitive to tyrosine kinase inhibitors (TKIs) such as osimertinib. However, 10% to 20% of patients harbor uncommon EGFR mutations, which exhibit variable responses to TKIs. Notably, some rare exon 19 mutations are often undetectable by conventional polymerase chain reaction (PCR) assays. In this case report, we describe an NSCLC patient with a novel exon 19 EGFR mutation identified by next-generation sequencing (NGS), which was not detected by commercial PCR assays. The patient experienced a modest response to osimertinib. We also provide a review of the current literature regarding these uncommon EGFR mutations.

Current Problems in Cancer Case ReportsVol. 18
Universidad de Salamanca (ES), Hospital Universitario La Paz (ES), Instituto de Salud Carlos III (ES), Hospital La Paz Institute for Health Research (ES), Hospital General Universitario de Ciudad Real (ES), Centro de Investigación Biomédica en Red de Cáncer (ES)
European Commission, Instituto de Salud Carlos III
Good health and well-being
Openalex Percentile: Top 82%
Lung Cancer Treatments and Mutations
DOIOpen Access PDFOpenAlex
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