BRAF signaling is involved in melanoma growth in more than half of metastatic patients. In the last few years, new drugs that block this pathway have significantly improved the outcomes of patients with metastatic melanoma. Ninety percent of BRAF mutations involve exon 15, and the most frequent, V600E, results from the amino acid change from valine (V) to glutamic acid (E). BRAF inhibitor treatments have shown a notable overall response rate and improvements in progression-free and overall survival. Rare BRAF mutations of codon 599 have been also described in a few patients with papillary thyroid cancer and melanoma. Nowadays, no evidence is available in the literature, describing the role of target therapies as treatment in patients with this specific codon mutation. We describe the case of a young woman with metastatic melanoma with a particular BRAF mutation, T599I, who has benefited from treatment with a BRAF inhibitor, vemurafenib.

BRAF-inhibitors can exert control of disease in BRAF T599I mutated melanoma: a case report

Becco, Paolo;Venesio, Tiziana;Zaccagna, Alessandro;GIACONE, ELENA FRANCESCA;Marenco, Federica;Racca, Manuela;Aglietta, Massimo;
2018-01-01

Abstract

BRAF signaling is involved in melanoma growth in more than half of metastatic patients. In the last few years, new drugs that block this pathway have significantly improved the outcomes of patients with metastatic melanoma. Ninety percent of BRAF mutations involve exon 15, and the most frequent, V600E, results from the amino acid change from valine (V) to glutamic acid (E). BRAF inhibitor treatments have shown a notable overall response rate and improvements in progression-free and overall survival. Rare BRAF mutations of codon 599 have been also described in a few patients with papillary thyroid cancer and melanoma. Nowadays, no evidence is available in the literature, describing the role of target therapies as treatment in patients with this specific codon mutation. We describe the case of a young woman with metastatic melanoma with a particular BRAF mutation, T599I, who has benefited from treatment with a BRAF inhibitor, vemurafenib.
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BRAF-inhibitors, RAF T599I, mutated melanoma, case report
Gallo, Susanna; Coha, Valentina; Caravelli, Daniela; Becco, Paolo; Venesio, Tiziana; Zaccagna, Alessandro; Giacone, Elena; Marenco, Federica; Pisacane, Alberto; Racca, Manuela; Gammaitoni, Loretta; Aglietta, Massimo; Carnevale-Schianca, Fabrizio
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2318/1663859
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