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Title:Prevalence of BRAF, NRAS and c-KIT mutations in Slovenian patients with advanced melanoma
Authors:ID Ebert Moltara, Maja (Author)
ID Novaković, Srdjan (Author)
ID Boc, Marko (Author)
ID Bučić, Marina (Author)
ID Reberšek, Martina (Author)
ID Zadnik, Vesna (Author)
ID Ocvirk, Janja (Author)
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Language:English
Typology:1.01 - Original Scientific Article
Organization:Logo OI - Institute of Oncology
Abstract:BRAF, NRAS and c-KIT mutations are characteristics of tumour tissues that influence on treatment decisions in metastatic melanoma patients. Mutation frequency and their correlation with histological characteristics in Slovenian population have not been investigated yet. Patients and methods. In our retrospective analysis we analysed mutational status of BRAF, NRAS and c-KIT in 230 pathological samples of patients who were intended to be treated with systemic therapy due to metastatic disease at the Institute of Oncology Ljubljana between 2013 and 2016. We collected also histological characteristics of primary tumours and clinical data of patients and correlated them with mutational status of tumour samples. Results. The study population consisted of 230 patients with a mean age 59 years (range 25%85). 141 (61.3%) were males and 89 (38.7%) females. BRAF mutations were identified in 129 (56.1%), NRAS in 31 (13.5%) and c-KIT in 3 (1.3%) tissue samples. Among the 129 patients with BRAF mutations, 114 (88.4%) patients had V600E mutation and 15 (11.6%) had V600K mutation. Patients with BRAF mutations tended to be younger at diagnosis (52 vs. 59 years, p < 0.05), patients with NRAS mutations older (61 vs. 55 years, p < 0.05). Number of c-KIT mutations were too low for any statistical correlation, but there was one out of 3 melanoma located in mucus membranes. Conclusions. The analysis detected high rate of BRAF mutations, low NRAS mutations and low c-KIT mutations compared to previously published studies in Europe and North America. One of the main reasons for this observation is specific characteristics of study population.
Keywords:BRAF, NRAS, c-KIT, melanoma
Publication status:Published
Publication version:Version of Record
Publication date:01.01.2018
Publisher:Association of Radiology and Oncology
Year of publishing:2018
Number of pages:str. 289-295, V
Numbering:Vol. 52, no. 3
Source:Ljubljana
PID:20.500.12556/DiRROS-19077 New window
UDC:616.5
ISSN on article:1318-2099
DOI:10.2478/raon-2018-0017 New window
COBISS.SI-ID:2891899 New window
Copyright:by Authors
Publication date in DiRROS:10.06.2024
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Downloads:38
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Record is a part of a journal

Title:Radiology and oncology
Shortened title:Radiol. oncol.
Publisher:Slovenian Medical Society - Section of Radiology, Croatian Medical Association - Croatian Society of Radiology
ISSN:1318-2099
COBISS.SI-ID:32649472 New window

Secondary language

Language:Slovenian
Abstract:Na odločitev o vrsti zdravljenja bolnikov z napredovalim melanomom lahko pomembno vpliva status mutacij v genih za BRAF, NRAS IN c-KIT. Pogostost mutacij in njihove medsebojne povezave s histološkimi značilnostmi tumorskih tkiv na slovenski populaciji do sedaj še niso bili raziskani. Bolniki in metode. Analizo smo izvedli retrospektivno. Mutacije BRAF, NRAS in c-KIT smo določili na 230 patoloških vzorcih bolnikov, ki smo jih nameravali zdraviti s sistemsko terapijo zaradi metastatskega melanoma na Onkološkem Inštitutu Ljubljana med leti 2013 in 2016. Zbrali smo histološke značilnosti primarnih tumorjev in klinične podatke bolnikov ter jih testirali na medsebojno povezanost z mutacijskim statusom. Rezultati. Povprečna starost 230 bolnikov je bila 59 let (razpon 25%85). Moških je bilo 141 (61,3 %) in žensk 89 (38,7 %). Ugotovili smo 129 (56,1 %) mutacij BRAF, 31 (13,5 %) NRAS in 3 (1,3 %) c-KIT mutacij v tkivnih vzorcih. Med 129 bolniki z mutacijami BRAF je imelo 114 (88,4 %) bolnikov mutacijo V600E in 15 (11,6 %) mutacijo V600K. Bolniki z BRAF mutacijami so bili ob diagnozi mlajši (52 v primerjavi s 59 let, p < 0,05), bolniki z NRAS mutacijami starejši (61 v primerjavi s 55 leti, p < 0,05). Število mutacij c-KIT je bilo prenizko za smiselno testiranje na medsebojne povezanosti, je pa bil eden izmed treh melanomov s c-KIT mutacijo melanom sluznice. Zaključki. Rezultati analize so v skupini slovenskih bolnikov z metastatskim melanomom odkrili visok delež mutacij BRAF ter nizek delež mutacij NRAS in c-KIT v primerjavi s predhodno objavljenimi raziskavami v Evropi in Severni Ameriki. Eden od glavnih vzrokov so specifične značilnosti naše študijske populacije, ki niso bile enake kot značilnosti celotne populacije bolnikov z melanomom.
Keywords:mutacije BRAF, mutacije NRAS, mutacije c-KIT, melanom


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