SUMMARY
Lung cancer is the leading cause of cancer-related death in the world. Tyrosine kinase inhibitor (TKI) targeted therapy of lung adenocarcinoma requires detection of genetic alteration. The most frequent targetable genetic alterations are mutations of epidermal growth factor receptor (EGFR) gene. Testing of bioptic samples is a standard of genetic alteration detection. Bronchoscopic sampling is often difficult because of the frequent peripheral localization of lung adenocarcinomas.
EGFR testing of circulating tumour DNA (ctDNA) is an alternative option. Frequency of EGFR mutations is higher in non-smokers according to published data. A retrospective analysis of 620 lung tumours treated at Pneumology department in Banská Bystrica from January 2016 to July 2020 shows that lung adenocarcinoma represented 36 % (n = 223). 169 adenocarcinoma patients (75.8 %) were tested for EGFR mutations. 22 EGFR mutations were confirmed, 13 % of tested cases (biopsy or ctDNA). The most frequent EGFR mutations detected were exon 19 deletion (50 %) and L858R substitution (45.5 %). EGFR mutation was present in 40.0 % tested cases within the non-smoker adenocarcinoma subgroup, however only 6.8 % of tested smokers were positive for this mutation. Exon 19 deletion represented 42.9 %, L858R substitution 50 % and exon 20 insertion 7.1 % in non-smokers. EGFR testing of bioptic samples as a part of standard diagnostic approach in non-smokers with lung adenocarcinoma is of immense importance due to high prevalence of mutations in this subgroup.
Key words: adenocarcinoma, EGFR, ctDNA, del 19, L858R.
Lek Obz, 2021, 70 (6): 206-211
Michal URDA 1, Simona LAŠTÍKOVÁ 1, Juraj MAZAL 1, Eva ROZBORILOVÁ 2, Lukáš PLANK 3, Anna FARKAŠOVÁ 4
1 Oddelenie pneumológie a ftizeológie, FNsP F.D. Roosevelta Banská Bystrica, vedúci MUDr. M. Urda
2 Klinika pneumológie a ftizeológie, JLF UK a UN Martin, prednosta doc. MUDr. R. Vyšehradský, PhD.
3 Ústav patologickej anatómie, JLF UK a UN Martin a Martinské bioptické centrum, s.r.o., Martin, prednosta prof. MUDr. L. Plank, CSc.
4 Martinské bioptické centrum, s.r.o., Martin, primár oddelenia MUDr. J. Gumančík
Cite:
URDA M., LAŠTÍKOVÁ S., MAZAL J., ROZBORILOVÁ E., PLANK L., FARKAŠOVÁ A.: Epidermal growth factor receptor gene mutations in non-smokers with lung adenocarcinoma in Banská Bystrica region. Lek Obz, 2021, 70 (6): 206-211
