engleski

Exon 19 and 21 deletions/mutations of EGFR gene in Croatian patients with non-small cell lung carcinomas

Aim: Epidermal growth factor receptor (EGFR) deletions/mutations leading to constitutive EGFR protein activity, have been detected in 20% of non-small cell lung carcinomas (NSCLC). Patients harbouring those mutations can significantly benefit when treated with EGFR tyrosine kinase inhibitor (TKI) therapy. Our study was performed to determine deletions/mutations among group of Croatian NSCLC patients. Methods: 104 patients diagnosed as NSCLC were included in our study. Tumour cells collected by bronchoscopy, were microdisected from cytological slides and DNA was isolated by NucleoSpin Tissue XS kit (Macherey- Nagel). EGFR exons 19 and 21 were amplified, cycle-sequenced by Big-Dye Termination method (Applied Biosystems) and sequenced on ABI 310 sequencer using ABI PRISM Sequencing Analysis software v 5.4. Results: 104 patients (median age 62, range 37-84, 55 male and 49 female) were included in this study, 22 (21.15 %) patients had EGFR mutations/deletions with no statistical significance according to gender. Exon 19 deletions were found in 12 (11.5%) and point mutations of exon 21 in 10 (9.6%) patients. Exon 19 deletions have shown unexpected diversity (4 patients/del E746-A751, 8 patients/different types of deletions). Point mutation of exon 21 was uniform (10 patients/ L858R mutation). Deletions of exon 19 showed higher prevalence in female population (66.7%), age < 60 (median age 56.5, range 36-77) and L858R exon 21 mutation in male population (60%), age > 60 (median age 63, range 41-72). Conclusion: Significant prevalence of EGFR deletions/mutations in this study group has demonstrated strong link of this diagnostic test to treatment, identifying NSCLC patients who may benefit from anti-EGFR TKI therapy.

egfr; mutations; adenocarcinomas

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