Zusammenfassung
Hintergrund
Einige Patienten mit einem nichtkleinzelligem Lungenkarzinom (NSCLC) sprechen hervorragend auf Tyrosinkinase-Hemmer (TKI) an. Eine somatische Mutation im epidermalen Wachstumsfaktor-Rezeptor (EGFR) gilt dabei als wichtiger prädikativer Faktor.
Patienten und Methode
Wir untersuchten 307 NCSLC auf EGFR-Mutationen (Exone 18–21) und überprüften deren Assoziation mit klinisch-pathologischen Parametern.
Ergebnisse
Unter 178 histologischen und 129 zytologischen Tumorproben fanden sich 25 (8,1%) relevante EGFR-Mutationen. Am häufigsten waren Deletionen in Exon 19 (50%), gefolgt von der Punktmutation L858R in Exon 21 (12,5%). EGFR-Mutationen waren bei Frauen im Vergleich zu Männern (16,8% vs. 2,7%; p<0,001) und in Adenokarzinomen im Vergleich zu den übrigen Karzinomen (11,4% vs. 3,8%; p=0,017) gehäuft. Mutierte NSCLC waren zu 96% TTF-1-positiv.
Schlussfolgerung
Therapierelevante EGFR-Mutationen kommen in <10% der mitteleuropäischen NSCLC-Patienten vor und sind gehäuft bei Frauen und TTF-1-positiven Adenokarzinomen. Histologische und zytologische Proben aus der Routinediagnostik sind in gleichem Maße für eine Mutationsanalyse geeignet.
Abstract
Background
Some patients with non-small cell lung cancer (NSCLC) respond well to therapy with tyrosine kinase inhibitors (TKI). Somatic mutation of the epidermal growth factor receptor (EGFR) gene is an important predictive marker for TKI response.
Patients and methods
We performed EGFR mutation analysis in 307 NSCLC (exon 18-21). The data were analyzed for associations with clinical-pathological parameters.
Results
Relevant EGFR mutations were found in 25/307 NSCLC (8.1%; 178 biopsies and 129 cytologies). Most mutations were found in exon 19 (50%) followed by the L858R point mutation in exon 21 (12.5%). EGFR mutations were significantly more common in women than in men (16.8% vs. 2.7%; p<0.001) and in adenocarcinoma than in other carcinoma subtypes (11.4% vs. 3.8%; p=0.017). EGFR mutation was associated with TTF-1 positivity (p<0.041). Almost all (96%) mutated NSCLC were TTF-1 positive.
Conclusion
In Central Europe, the prevalence of relevant EGFR mutations in NSCLC is <10% of patients with NSCLC. EGFR mutations are more common in women and TTF-1 positive adenocarcinomas. Mutation analysis can be performed both from biopsies and cytologies.
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Tapia, C., Savic, S., Bihl, M. et al. EGFR-Mutationsanalyse beim nichtkleinzelligen Lungenkarzinom. Pathologe 30, 384–392 (2009). https://doi.org/10.1007/s00292-009-1141-4
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DOI: https://doi.org/10.1007/s00292-009-1141-4