BRAF mutations in cutaneous melanoma: no correlation with histological prognostic factors or overall survival

Jung, Juliana Elizabeth; Falk, Thomas M; Bresch, Martina; Matias, Jorge Eduardo Fouto; Böer, Almut

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 percent) and metastatic (40 percent) 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.

Biblioteca Virtual en Salud

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