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.

A novel BRAF mutation in association with primary amelanotic melanoma with oral metastases / Zalaudek, I.; Ciarrocchi, A.; Piana, S.; Argenziano, Giuseppe; Torricelli, Federica; Sancisi, Valentina; Gandolfi, G.; Longo, Caterina; Moscarella, Elvira; Banzi, C.; Nicoli, D.. - In: JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY. - ISSN 0926-9959. - 29:2(2015), pp. 387-390. [10.1111/jdv.12358]

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

ARGENZIANO, GIUSEPPE;TORRICELLI, FEDERICA;SANCISI, Valentina;LONGO, Caterina;MOSCARELLA, ELVIRA;
2015

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.
2015
7-gen-2014
29
2
387
390
A novel BRAF mutation in association with primary amelanotic melanoma with oral metastases / Zalaudek, I.; Ciarrocchi, A.; Piana, S.; Argenziano, Giuseppe; Torricelli, Federica; Sancisi, Valentina; Gandolfi, G.; Longo, Caterina; Moscarella, Elvira; Banzi, C.; Nicoli, D.. - In: JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY. - ISSN 0926-9959. - 29:2(2015), pp. 387-390. [10.1111/jdv.12358]
Zalaudek, I.; Ciarrocchi, A.; Piana, S.; Argenziano, Giuseppe; Torricelli, Federica; Sancisi, Valentina; Gandolfi, G.; Longo, Caterina; Moscarella, El...espandi
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11380/1139956
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