BRAF mutation -: A frequent event in benign, atypical, and malignant melanocytic lesions of the skin

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dc.contributor.authorUribe, P
dc.contributor.authorWistuba, II
dc.contributor.authorGonzález, S
dc.date.accessioned2025-01-21T01:08:54Z
dc.date.available2025-01-21T01:08:54Z
dc.date.issued2003
dc.description.abstractBRAF mutations have recently been detected with a high frequency (66%) in cutaneous melanoma. All those mutations are activating, with a single substitution (T1796A) at codon 599 (V599E) accounting for over 90%. To investigate the stage in which those mutations occur in the currently proposed sequential malignant transformation of melanocytes, 22 benign melanocytic nevi, 23 melanocytic atypical nevi, and 25 primary cutaneous melanoma from 63 different patients were examined for BRAF mutations using DNA extracted from microdissected formalin-fixed and paraffin-embedded tissues, and a two-round PCR-RFLP-based strategy. A subset of samples was sequenced for mutation confirmation. Sixteen benign (73%) and eleven atypical (52%) melanocytic nevi, and thirteen melanoma (56%) demonstrated BRAF mutations at codon 599, and no statistically significant differences were detected among all three types of lesions. No mutations were demonstrated in microdissected epidermal keratinocytes adjacent to melanocytic lesions having BRAF mutations. No correlation was detected between BPAF mutational status and age, sun exposure, and Clark's level in malignant melanoma. However, comparing only atypical nevi and melanoma lesions the frequency of BRAF mutation is significantly greater in male (78%) than female (35%) patients (P = 0.0194). The previously described T1796A point mutation was detected in 17 of 18 mutated samples, and a novel mutation consisting of a substitution of valine for lysine (GT1795-96AA) was detected in one melanoma case. Our findings of a high frequency of BRAF mutations at codon 599 in benign metanocytic lesions of the skin indicate that this mutation is not sufficient by itself for malignant transformation.
dc.fuente.origenWOS
dc.identifier.issn0193-1091
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/96523
dc.identifier.wosidWOS:000185517700001
dc.issue.numero5
dc.language.isoen
dc.pagina.final370
dc.pagina.inicio365
dc.revistaAmerican journal of dermatopathology
dc.rightsacceso restringido
dc.subjectatypical nevi
dc.subjectbenign nevi
dc.subjectBRAF
dc.subjectmelanoma
dc.subjectmutation
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titleBRAF mutation -: A frequent event in benign, atypical, and malignant melanocytic lesions of the skin
dc.typeartículo
dc.volumen25
sipa.indexWOS
sipa.trazabilidadWOS;2025-01-12
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