BRAF mutations in cutaneous melanoma: no correlation with histological prognostic factors or overall survival
INTRODUCTION: Molecular biology techniques allow identification of molecular markers such as BRAF and c-Kit gene mutations in melanomas. Studies on genetic alterations in melanomas of South-American patients are sparse. OBJECTIVES: To identify the incidence of BRAF and c-Kit gene mutations in primar...
| Authors: | , , , , |
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| Format: | article |
| Status: | Published version |
| Publication Date: | 2010 |
| Country: | Brasil |
| Institution: | Sociedade Brasileira de Patologia (SBP) |
| Repository: | Jornal Brasileiro de Patologia e Medicina Laboratorial (Online) |
| Language: | English |
| OAI Identifier: | oai:scielo:S1676-24442010000600009 |
| Online Access: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1676-24442010000600009 |
| Access Level: | Open access |
| Keyword: | Proto-oncogene proteins BRAF Proto-oncogene proteins c-Kit Malignant melanoma |
| Summary: | INTRODUCTION: Molecular biology techniques allow identification of molecular markers such as BRAF and c-Kit gene mutations in melanomas. Studies on genetic alterations in melanomas of South-American patients are sparse. OBJECTIVES: To identify the incidence of BRAF and c-Kit gene mutations in primary cutaneous melanomas in Brazilian patients and to evaluate pathogenetic and prognostic implications of these mutations correlating them with clinical and histopathological data. MATERIAL AND METHODS: Ninety-six surgical specimens of primary cutaneous melanoma and 15 corresponding metastasis were analyzed using TaqMan Real-Time polymerase chain reaction (PCR) assays. RESULTS: In comparison with the medical literature, a relatively low frequency of BRAF mutation in primary (39%) and metastatic (40%) melanomas and complete absence of c-Kit gene mutations were demonstrated. BRAF mutations arose at an early stage during melanoma progression and were not involved in the transition of thin (< 1 mm) to thick (> 1 mm) melanomas. BRAF mutations are related to patients' younger age and to the pattern of sun exposure, although there was no correlation with any histological prognostic factor or overall survival. CONCLUSION: The identification of both BRAF and c-Kit mutation is not a suitable prognostic indicator in the Brazilian population. Moreover, the relatively low frequency of BRAF mutations brings into question if it actually plays a key role in melanoma pathogenesis. |
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