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Updated: Sep 29, 2025

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
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Published on: September 20, 2016

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Two Unusual Mutations in the Epidermal Growth Factor Receptor Gene in a Patient With Lung Adenocarcinoma

Martin Zapata Laguado1, Andrea Zuluaga1, Rafael Parra Medina2

  • 1Clinical Oncology, Instituto Nacional de Cancerología, Bogotá, COL.

Cureus
|March 24, 2022
PubMed

Insights

This case study highlights a patient with non-small cell lung cancer (NSCLC) and rare epidermal growth factor receptor (EGFR) mutations. Osimertinib was administered to treat these unusual mutations, aiming to prevent central nervous system relapse.

Area of Science:

  • Oncology
  • Genetics
  • Pharmacology

Background:

  • Lung adenocarcinoma (ADC) is the most common non-small cell lung cancer (NSCLC) subtype.
  • Targeted therapies, particularly epidermal growth factor receptor (EGFR) inhibitors, have improved outcomes for ADC patients with specific mutations.
  • Limited data exists on treating rare EGFR mutations in exons 18 and 20.

Observation:

  • A 65-year-old female presented with non-small cell lung cancer harboring two uncommon EGFR mutations: G719X in exon 18 and S768I in exon 20.
  • The patient had no evidence of central nervous system (CNS) involvement at diagnosis.
  • These specific mutations are often associated with resistance to standard EGFR-targeted therapies.

Findings:

  • Osimertinib was administered due to its favorable toxicity profile and potential to prevent future CNS metastasis.
  • The treatment decision was based on the presence of unusual EGFR mutations typically resistant to standard therapies.

Implications:

  • This case suggests that osimertinib may be a viable treatment option for lung adenocarcinoma patients with combined rare EGFR mutations in exons 18 and 20.
  • Further research is warranted to evaluate the efficacy and safety of osimertinib in this specific patient population.
  • Understanding the treatment landscape for rare EGFR mutations is crucial for optimizing patient outcomes in NSCLC.
Keywords:
egfr geneegfr mutationslung adenocarcinomanon-small-cell lungosimertinib

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