A Rare Complex BRAF Mutation Involving Codon V600 and K601 in Primary Cutaneous Melanoma : Case Report

Copyright © 2020 Consoli, Barbieri, Picciolini, Medicina, Bugatti, Tovazzi, Liserre, Zambelli, Zorzi, Berruti, Giurisato and Vermi..

BRAF is one of the most common mutated kinases detected in human cancer, particularly in cases of primary cutaneous melanomas (PCM). Mutations of the BRAF proto-oncogene, at the p.V600 codon, has been detected in more than 50% of primary and metastatic melanoma cells in clinical samples. In addition to the most frequent BRAF p.V600E mutation, corresponding to the single base pair substitution c.1799T>A, rarer mutations, within and outside the V600 codon, have been described. Expectedly, BRAF and MEK inhibitors (or their combination) have been poorly explored as potential therapeutic strategies in metastatic melanomas harboring this rare mutation. By using a set of sequencing techniques and immunohistochemistry, this work reports the genomic and clinical features of two melanoma patients showing a rare complex mutation affecting codon V600 and K601 of the BRAF gene, leading to a V600E2; K601I change. Specifically, these two patients show a distinct clinical behavior and significantly differ in their responses to BRAF and MEK inhibitors. Indeed, although this treatment has proven to be effective and safe in both cases, the observed variability between the two patients resulted as a direct consequence of the baseline extent of brain involvement, intracranial treatment failure as well as on the PTEN status.

Medienart:

E-Artikel

Erscheinungsjahr:

2020

Erschienen:

2020

Enthalten in:

Zur Gesamtaufnahme - volume:10

Enthalten in:

Frontiers in oncology - 10(2020) vom: 27., Seite 1056

Sprache:

Englisch

Beteiligte Personen:

Consoli, Francesca [VerfasserIn]
Barbieri, Gianluca [VerfasserIn]
Picciolini, Matteo [VerfasserIn]
Medicina, Daniela [VerfasserIn]
Bugatti, Mattia [VerfasserIn]
Tovazzi, Valeria [VerfasserIn]
Liserre, Barbara [VerfasserIn]
Zambelli, Claudia [VerfasserIn]
Zorzi, Fausto [VerfasserIn]
Berruti, Alfredo [VerfasserIn]
Giurisato, Emanuele [VerfasserIn]
Vermi, William [VerfasserIn]

Links:

Volltext

Themen:

BRAF
BRAF inhibitors
Case Reports
MEK inhibitors
Metastatic melanoma
Mutation
NGS

Anmerkungen:

Date Revised 28.09.2020

published: Electronic-eCollection

Citation Status PubMed-not-MEDLINE

doi:

10.3389/fonc.2020.01056

funding:

Förderinstitution / Projekttitel:

PPN (Katalog-ID):

NLM313296669