PREVALENCE OF BRAF, NRAS AND C-KIT MUTATION IN SLOVENE MELANOMA PATIENT
BRAF, NRAS and C-KIT mutation are characteristics of melanoma tumours that influence treatment decisions in metastatic melanoma. Frequency, pathological correlation and their clinical significance have not been jet investigated in Slovenian population.
Patients and methods.
In our retrospective analysis of mutational status of BRAF, NRAS and c-KIT we have included 230 histological samples of patients who were intended to be treated with systemic therapy due to metastatic disease at our cancer centre from 2013-2016. We collected clinical-pathological data of patients and correlate them with mutational status of tumour samples.
Our study population consisted of 230 patient with a mean age 59 (range 25-85), 141 (61,3%) males and 89 (38,7%) females. Molecular analysis of BRAF, NRAS and C-KIT mutation rates were 129 (56,1%), 31 (15,1%) and 3 (1,5%), respectively. Among the 129 patient with BRAF mutation, 114 (88,4%) patients had V600E mutation, other 15 (11,6%) had V600K mutation. Patient with BRAF mutation tend to be younger at diagnosis (52 vs 59 years, p<0,05), patient with NRAS mutation older (61 vs. 55 years, p<0,05). BRAF mutation was more common in superficial spreading melanoma, NRAS was more characteristic of nodular melanoma. Number of C-KIT mutation was too low for any correlation statistic, but there was one out of 3 melanoma located in mucus membranes.
Our analysis detected high rate of BRAF mutation, low NRAS and low c-KIT comparing to most previous published studies in Europe and America. Main reason for this observation is most probably study population selection.