Genotyping melanoma in Colombia.
Genotipificación del melanoma en Colombia.
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Introduction: Melanoma has high clonal heterogeneity which follows a geographical pattern. The advent of therapy involving BRAF-specific inhibitors has enabled many efforts at exploring these neoplasias’ genotype around the world, documenting V600E and V600K alterations in about 50% of affected patients born in the USA, Western Europe and Australia. Few studies have evaluated the presence of alterations in the BRAF and KIT in the Hispanic population, finding a frequency between 39 and 77%, and 0%, respectively. Materials and methods: 81 patients were explored for BRAF (V600E/V600K), NRAS (exons 1 and 2) and cKIT (exons 9, 11, 13 and 17) mutations using sequencing and RT-PCR (COBAS) techniques, following confirmation of histology and micro-dissection. Results: The patients were aged 53 years old on average (SD±14,5) and 59% were older than 50 when diagnosed; 47 cases (58%) were female. When ascertaining the origin of the patients’ melanomas 39,5% of the tumours were found in skin which had been chronically exposed to sunlight, 19,8% could not be typed, 19,8% were acral-lentiginous melanomas, 7,4% were primary mucosal melanomas and 1,2% were uveal tumours. Tumour representation in paraffin-embedded tissue was good (80%), the site from which the sample was taken was usually the skin (42%), lymph nodes (26%) and the lungs (9.8%). Tumour stage was greater than 3 in 70% of the cases; however, information concerning this item could not be obtained for 30% of the patients. BRAF mutation frequency was 24,7% (n = 20), 4,9% (n = 4) for cKIT and 6,1% (n = 5) for NRAS. 69,4% (36 evaluable cases) had greater than 20% KI67; this finding was greater in patients suffering lesions in chronically-exposed skin (p = 0,052) and in those carrying a BRAF mutation (p = 0,048). Conclusions: The mutational profile of Colombian melanoma patients reported in this study differ with that described previously, especially for BRAF; however, such findings did agree with greater prevalence of mucosal and acral-lentiginous lesions.
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