| Abstract | Cilj istraživanja: Melanom kože čini 1,79% ukupne incidencije svih zloćudnih tumora (13). Iako čini samo 4% svih karcinoma kože, on je odgovoran za 80% smrtnih slučajeva uzrokovanih karcinomima kože (140). Cilj ovog istraživanja je odrediti pojavnost mutacija gena BRAF i NRAS u bolesnika oboljelih od melanoma čiji su uzorci tumorskog tkiva analizirani u Kliničkom zavodu za patologiju, citologiju i sudsku medicinu u periodu od 2017. do 2019. godine. Ispitanici i metode: U istraživanje je uključeno 70 ispitanika s dijagnosticiranim melanomom kože, kojima je u uzorku tumorskog tkiva provedena molekularna analiza mutacija gena BRAF i NRAS. Podaci su prikupljeni pretraživanjem baze podataka Laboratorija za kliničku i sudsku medicinu i Odjela za patologiju Kliničkog zavoda za patologiju, sudsku medicinu i citologiju. Svim ispitanicima su prikupljeni i analizirani podaci o spolu, dobi, prisutnosti i genotipu mutacija gena BRAF i NRAS. Rezultati: Od ukupnog broja ispitanika s melanomom kože (n=70), na muškarce otpada 54 (77,14%), a na žene 16 (22,86%). Medijan godina ispitanika je 69 (raspon 28-87). Najveći broj ispitanika je između 60. i 75. godina (50%). Od ukupnog broja ispitanika njih 28 ima mutaciju gena BRAF (40%), 10 ima mutaciju gena NRAS (14,29%), a 33 ispitanika ima divlji tip melanoma (47,14%). Jedan ispitanik ima istodobno prisutnu i mutaciju gena BRAF i mutaciju gena NRAS (1,43%). Među ispitanicima s mutacijom gena BRAF, genotip V600E je prisutan u 17 osoba (60,72%), genotip V600K je prisutan u 7 osoba (25%), genotip V600R u jedne osobe (3,57%) te genotip K601E u jedne osobe (3,57%). Mutacija na egzonu broj 11 je prisutna u 2 osobe (7,14%). Mutacija gena NRAS na kodonu 61 je prisutna u 10 ispitanika (100%). Zaključak: U ovom istraživanju melanom kože se 3 puta češće javlja u osoba muškog spola nego u osoba ženskog spola. BRAF/NRAS mutacijski status je pozitivan u više od polovice ispitanika obuhvaćenih ovim istraživanjem. Postotak ispitanika bez mutacije gena BRAF je veći u odnosu na postotak ispitanika koji imaju mutaciju. Također postotak ispitanika bez mutacije gena NRAS je veći u odnosu na postotak ispitanika koji imaju mutaciju. I mutacija gena BRAF i mutacija gena NRAS se češće javljaju u osoba muškog spola, nego u osoba ženskog spola. Najčešći genotip mutacije gena BRAF je V600E. Svi ispitanici s mutacijom gena NRAS imaju mutaciju na kodonu 61. |
| Abstract (english) | Objective: Melanoma of the skin accounts for 1.79% of all malignant diseases (13). Although it accounts for only 4% of all skin cancers, it is responsible for 80% of deaths caused by them (140). The aim of this thesis is to determine the occurrence of mutations in BRAF and NRAS genes in patients with melanoma, whose tumor tissue samples were analyzed in the Clinical Institute of Pathology, Cytology and Judicial Medicine in the period from 2017 to 2019. Subjects and methods: The study included 70 patients with diagnosed melanoma of the skin who were analysed on mutation of BRAF and NRAS genes in the tumor tissue samples. Data was collected by searching the database of the Clinical and Judicial Medicine Laboratory and Department of Pathology of the Clinical Institute of Pathology, Judicial Medicine and Cytology. All patients were collected and analyzed on gender, age, presence and genotype of BRAF and NRAS mutations. Results: Of the total number of patients analyzed on BRAF and NRAS mutation (n =70), men are 54 (77.14%) and women are 16 (22.86%). The median age of patients is 69 (range 28-87). The analysis showed that most patients are between 60 and 75 years old (50%). Of the total number of patients, 28 has mutation of BRAF gene (40%), 10 has mutation of NRAS gene (14.29%), and 33 has wild type of melanoma (47.14%). One patient has mutation of both BRAF and NRAS gene (1.43%). Among the patients with mutation of BRAF gene, the V600E genotype is present in 17 people (60.72%), V600K genotype is present in 7 (25%), V600R genotype in one person (3.57%) and K601E genotype in one person (3.57%). Mutation in exon 11 is present in 2 people (7.14%). Mutation of NRAS gene at codon 61 is present in 10 subjects (100%). Conclusion: In this thesis, melanoma appears 3 times more often in males than in females. BRAF/NRAS mutation status is positive in more than half of the patients covered by this thesis. The percentage of patients without mutation of BRAF gene is higher than the percentage of patients with mutation. Also, the percentage of patients without mutation of NRAS gene is higher than the percentage of patients with mutation. Both mutation of BRAF gene and NRAS gene are more common in a males than in females. The most common genotype of BRAF mutation is V600E. All patients with mutation of NRAS gene have a mutation at codon 61. |
