A novel BRAF mutation in association with primary amelanotic melanoma with oral metastases. (7th January 2014)

• Record Type: Journal Article
• Authors: Zalaudek, I.; Ciarrocchi, A.; Piana, S.; Argenziano, G.; Torricelli, F.; Sancisi, V.; Gandolfi, G.; Longo, C.; Moscarella, E.; Banzi, C.; Nicoli, D.
• Is Part Of: Journal of the European Academy of Dermatology and Venereology. Volume 29:Number 2(2015:Feb.)
• Page Start: 387
• Page End: 390
• Publication Date: 2014-01-07
• Subjects: Dermatology -- Periodicals; Sexually transmitted diseases -- Periodicals; 616.5
• DOI: 10.1111/jdv.12358
• Languages: English
• ISSNs: 0926-9959

Abstract

<abstract abstract-type="main" id="jdv12358-abs-0001"> <title>Abstract</title> <sec id="jdv12358-sec-0001" sec-type="section"> <title>Background</title> <p>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.</p> </sec> <sec id="jdv12358-sec-0002" sec-type="section"> <title>Objective</title> <p>To report the genetical analysis of one case amelanotic melanoma developing oral metastasis.</p> </sec> <sec id="jdv12358-sec-0003" sec-type="section"> <title>Methods</title> <p>The BRAF mutational status of the primary lesion was assessed by both Sanger sequencing and pyrosequencing.</p> </sec> <sec id="jdv12358-sec-0004" sec-type="section"> <title>Results</title> <p>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).</p> </sec> <sec id="jdv12358-sec-0005" sec-type="section"> <title>Conclusion</title> <p>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.</p> </sec> </abstract>