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Background <p>Epidermal Growth Factor Receptor (EGFR) mutations play a central role in the management of non-small cell lung cancer (NSCLC) by identifying patients who may benefit from targeted therapies. While the global distribution of EGFR mutations has been widely described, data from North African populations remain sparse. This gap limits the understanding of regional molecular profiles and underscores the need for population-specific evidence to inform precision oncology in North Africa.</p> Patients and methods <p>We analysed EGFR mutations in a cohort of 385 Tunisian patients with histologically confirmed NSCLC. Real-time PCR was used to screen for mutations in exons 18–21 of the <i>EGFR</i> gene. Associations between mutational status and clinical or demographic characteristics were assessed using appropriate statistical methods.</p> Results <p>EGFR mutations were detected in 77 among 385 patients (20%). Exon 19 deletions and the exon 21 L858R substitution were the most common alterations, mirroring global patterns. EGFR mutations were significantly associated with age, sex, and smoking status. The rare L861Q variant accounted for 11.8% of EGFR-positive cases, representing a distinctive feature of our Tunisian cohort. In univariate analysis, overall survival was significantly longer in patients harbouring EGFR mutations; however, this association was not retained in the multivariable Cox regression model after adjustment for clinicopathological factors. The most favourable outcomes were observed in patients carrying common EGFR variants (Del19 and L858R).</p> Conclusion <p>This study demonstrates a substantial prevalence of EGFR mutations in Tunisian NSCLC patients and reinforces the importance of integrating routine molecular testing into clinical practice. These findings provide essential baseline data to guide personalized therapeutic strategies in Tunisia and expand current knowledge on EGFR mutation patterns in North African populations.</p>

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EGFR mutation spectrum and clinical correlations in Tunisian Non-Small cell lung cancer patients

  • 期刊论文

  • 发表日期：

    2026年1月20日

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  • Rania Abdelmaksoud-Dammak,
  • Nihel Ammous-Boukhris,
  • Slim Charfi,
  • Nesrine Kallel,
  • Rim Khemakhem,
  • Ameni Feki,
  • Tahya Sellami Boudawara,
  • Ilhem Yangui,
  • Afef Khanfir,
  • Raja Mokdad Gargouri

摘要

Background

Epidermal Growth Factor Receptor (EGFR) mutations play a central role in the management of non-small cell lung cancer (NSCLC) by identifying patients who may benefit from targeted therapies. While the global distribution of EGFR mutations has been widely described, data from North African populations remain sparse. This gap limits the understanding of regional molecular profiles and underscores the need for population-specific evidence to inform precision oncology in North Africa.

Patients and methods

We analysed EGFR mutations in a cohort of 385 Tunisian patients with histologically confirmed NSCLC. Real-time PCR was used to screen for mutations in exons 18–21 of the EGFR gene. Associations between mutational status and clinical or demographic characteristics were assessed using appropriate statistical methods.

Results

EGFR mutations were detected in 77 among 385 patients (20%). Exon 19 deletions and the exon 21 L858R substitution were the most common alterations, mirroring global patterns. EGFR mutations were significantly associated with age, sex, and smoking status. The rare L861Q variant accounted for 11.8% of EGFR-positive cases, representing a distinctive feature of our Tunisian cohort. In univariate analysis, overall survival was significantly longer in patients harbouring EGFR mutations; however, this association was not retained in the multivariable Cox regression model after adjustment for clinicopathological factors. The most favourable outcomes were observed in patients carrying common EGFR variants (Del19 and L858R).

Conclusion

This study demonstrates a substantial prevalence of EGFR mutations in Tunisian NSCLC patients and reinforces the importance of integrating routine molecular testing into clinical practice. These findings provide essential baseline data to guide personalized therapeutic strategies in Tunisia and expand current knowledge on EGFR mutation patterns in North African populations.