BRAF Mutation: A Frequent Event in Benign, Atypical, and Malignant Melanocytic Lesions of the Skin

摘要: BRAF mutations have recently been detected with a high frequency (66%) in cutaneous melanoma. All those are activating, single substitution (T1796A) at codon 599 (V599E) accounting for over 90%. To investigate the stage which occur currently proposed sequential malignant transformation of melanocytes, 22 benign melanocytic nevi, 23 atypical and 25 primary melanoma from 63 different patients were examined using DNA extracted microdissected formalin-fixed paraffin-embedded tissues, two-round PCR-RFLP-based strategy. A subset samples was sequenced mutation confirmation. Sixteen (73%) eleven (52%) thirteen (56%) demonstrated 599, no statistically significant differences among all three types lesions. No epidermal keratinocytes adjacent to lesions having mutations. correlation between mutational status age, sun exposure, Clark's level However, comparing only nevi is significantly greater male (78%) than female (35%) (P = 0.0194). The previously described T1796A point 17 18 mutated samples, novel consisting valine lysine (GT1795-96AA) one case. Our findings skin indicate that this not sufficient by itself transformation.