Epidermal growth factor receptor mutations in lung adenocarcinoma

Uvod: Rak pluća je u Hrvatskoj kod muškarca na prvom, a kod žena na drugom mjestu po učestalosti sijela novodijagnosticiranih karcinoma. EGFR mutacije su značajno zastupljene kod žena i nepušača sa dijagnosticiranim adenokarcinomom pluća. Dokaz aktivirajućih EGFR mutacija otvara mogućnost liječenja TKI terapijom koja značajno unaprijeđuje preživljenje bez progresije bolesti pacijenata. ----- Materijali i metode: Analizirano je 57 ispitanika sa primarnim adenokarcinomom, 1 ispitanik sa primarnim adenoplanocelularnim i 1 ispitanik sa karcinomom ne-malih stanica pluća liječenih na Klinici za plućne bolesti Jordanovac kojima je pozitivan EGFR mutacijski status određen u periodu 12.1.2015. – 7.1.2016. godine. ----- Rezultati: Od ukupno 59 ispitanika 79.7 % je ženskog, a 20.3% muškog spola. Medijan dobi pri dijagnozi primarnog procesa kod muškaraca je bio 60, a kod žena 66 godina. Većina ispitanika je pri dijagnozi bila u stadijima IIIB-IV(62.7%). Većina ispitanika su bili nepušači (69.5%),zatim bivši pušači(23.7%) i pušači(6.8%). Najčešće mutacije su bile delecije u egzonu 19 (32/59 ; 54.2%) te L858R mutacija u egzonu 21 (12/59 ; 20.3%). Od 59 ispitanika 34 su primili neki oblik TKI terapije (57.6%). Svaki pacijent je u prosjeku primio 14.9 ciklusa TKI. Inhibirajuća T790M mutacija je bila prisutna kod 4 pacijenta (6.8%). ----- Zaključak: Dvije najzastupljenije mutacije bile su egzon 19 delecija i mutacija L858R. Porast broja inhibirajućih T790M mutacija u odnosu na 2014. godinu navodi važnost ponovnog testiranja pacijenata sa dokazanim pozitivnim EGFR mutacijskim statusom. Dokazivanjem ove mutacije povezane sa stečenom rezistencijom na TKI terapiju otvara se mogućnost za uporabu osimertiniba, TKI treće generacije.Introduction: Lung cancer represents the most common cancer site in males, while in females it holds the second place. EGFR mutations are significantly expressed in females and never-smokers with diagnosed lung adenocarcinoma. Evidence of activating EGFR mutations opens up the possibility of TKI treatment that may significantly improve progression-free survival. ----- Materials and methods: A total of 59 patients with primary lung adenocarcinoma treated at the Clinical Center for Pulmonary Diseases Jordanovac that were tested postive on EGFR mutations in 2015 were analysed. ----- Results: Among the 59 patients, 79.7% were females and 20.3% were males. The mean age at the diagnosis of the primary process was 60 years and in females 66 years. The majority of patients presented at the diagnosis with stages IIIB-IV (62.7%). The patients were predominantly never-smokers (69.5%), followed by former smokers (23.7%), and smokers (6.8%). The most common mutations were exon 19 deletion (32/59 ; 54.2%) and L858R mutation in exon 21 (12/59 ; 20.3%). Of 59 patients, 34 received some form of TKI therapy. Every patient received on average 14.9 cycles of TKI therapy. Inhibiting T790M mutation was present in 4 patients (6.8%). ----- Conclusion: The two most common mutations were exon 19 deletion and L858R mutation. The increase in number of T790M mutations in comparison to the year 2014 implies the importance of re-testing the patients with positive EGFR mutations. The detection of this mutation related to the acquired resistance to TKI therapy opens up the possibilty of treatment with third generation TKI osimertinib