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

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)143-146
Number of pages4
JournalMelanoma Research
Volume28
Issue number2
DOIs
Publication statusPublished - Apr 1 2018

Fingerprint

Melanoma
Mutation
Codon
Valine
Therapeutics
Disease-Free Survival
Glutamic Acid
Exons
Amino Acids
Growth
Pharmaceutical Preparations

ASJC Scopus subject areas

  • Oncology
  • Dermatology
  • Cancer Research

Cite this

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title = "BRAF-inhibitors can exert control of disease in BRAF T599I mutated melanoma: a case report",
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.",
author = "Susanna Gallo and Valentina Coha and Daniela Caravelli and Paolo Becco and Tiziana Venesio and Alessandro Zaccagna and Elena Giacone and Federica Marenco and Alberto Pisacane and Manuela Racca and Loretta Gammaitoni and Massimo Aglietta and Fabrizio Carnevale-Schianca",
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T2 - a case report

AU - Gallo, Susanna

AU - Coha, Valentina

AU - Caravelli, Daniela

AU - Becco, Paolo

AU - Venesio, Tiziana

AU - Zaccagna, Alessandro

AU - Giacone, Elena

AU - Marenco, Federica

AU - Pisacane, Alberto

AU - Racca, Manuela

AU - Gammaitoni, Loretta

AU - Aglietta, Massimo

AU - Carnevale-Schianca, Fabrizio

PY - 2018/4/1

Y1 - 2018/4/1

N2 - 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.

AB - 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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