A novel BRAF mutation in association with primary amelanotic melanoma with oral metastases

Authors


  • Conflicts of interest

    • None declared.
  • Funding sources

    • Study supported in part by the Italian Ministry of Health (RF-2010-2316524) and by the Umberto Veronesi Foundation (Dr. Ciarrocchi A.)
  • All investigations have been reviewed in accordance with the precepts established by the Helsinki Declaration.
  • The first two authors had equal contribution in the writing of this manuscript and equally share first authorship.

Abstract

Background

In the context of amelanotic melanoma, little is known on the genetic or molecular background that determines the onset of this peculiar phenotype of melanoma and its sites of metastatic spread. However, it appears that amelanotic melanomas frequently lack BRAF mutations.

Objective

To report the genetical analysis of one case amelanotic melanoma developing oral metastasis.

Methods

The BRAF mutational status of the primary lesion was assessed by both Sanger sequencing and pyrosequencing.

Results

Both methodologies showed changes in three nucleotides: C1796T; G1798A and T1799A. These mutations should result in a rare double aminoacid substitution in codons 599 and 600 of the BRAF protein (BRAF T599I/V600K).

Conclusion

This unusual mutation was associated with an uncommon clinical phenotype of the primary tumour and with an unusual site of metastatic spread. In the lack of comparable data, a potential association between the unusual mutation and clinical findings remains a matter of further studies.

Ancillary