Identification of Targetable EGFR Mutations in Ovarian Cancer

Area of Science:

• Oncology
• Genetics
• Genomics

Background:

• Epidermal growth factor receptor (EGFR) mutations are well-established drivers in non-small cell lung cancer (NSCLC).
• EGFR-targeted therapies have significantly improved outcomes for NSCLC patients with these mutations.
• The prevalence and clinical relevance of EGFR mutations in ovarian cancer remain largely undescribed.

Purpose of the Study:

• To determine the real-world prevalence of pathogenic or likely pathogenic EGFR mutations in ovarian cancer.
• To identify specific EGFR alterations within the ovarian cancer cohort.
• To report a case of metastatic ovarian cancer with an EGFR mutation responding to osimertinib.

Main Methods:

• Retrospective analysis of 33,850 ovarian cancer samples subjected to next-generation sequencing (NGS) between 2016 and 2025.
• Identification of pathogenic or likely pathogenic EGFR mutations based on established databases.
• Clinical data review for patients with identified EGFR mutations.

Main Results:

• Pathogenic or likely pathogenic EGFR mutations were identified in 27 out of 33,850 (0.08%) ovarian cancer patients.
• Common EGFR alterations included exon 20 mutations (n=12), L858R (n=3), and exon 19 deletions (n=2).
• One patient with metastatic ovarian cancer and an EGFR mutation experienced a durable objective response (>17 months) to osimertinib.

Conclusions:

• Oncogenic EGFR mutations are a rare but actionable finding in ovarian cancer.
• Comprehensive genomic profiling, including NGS, is valuable for identifying these rare, targetable alterations in ovarian cancer management.
• EGFR-directed therapies hold potential therapeutic value for a subset of ovarian cancer patients with specific EGFR mutations.