MBD4 deficiency is predictive of response to immune checkpoint inhibitors in metastatic uveal melanoma patients.
Fiche publication
Date publication
juillet 2022
Journal
European journal of cancer (Oxford, England : 1990)
Auteurs
Membres identifiés du Cancéropôle Est :
Dr GEOFFROIS Lionnel, Pr KURTZ Jean-Emmanuel
Tous les auteurs :
Saint-Ghislain M, Derrien AC, Geoffrois L, Gastaud L, Lesimple T, Negrier S, Penel N, Kurtz JE, Le Corre Y, Dutriaux C, Gardrat S, Barnhill R, Matet A, Cassoux N, Houy A, Ramtohul T, Servois V, Mariani P, Piperno-Neumann S, Stern MH, Rodrigues M
Lien Pubmed
Résumé
MBD4 mutations have been reported in uveal melanomas, acute myeloid leukemias, colorectal adenocarcinomas, gliomas, and spiradenocarcinomas and cause a hypermutated phenotype. Although metastatic uveal melanomas (mUM) are usually resistant to immune checkpoint inhibitors (ICI), the first reported MBD4-mutated (MBD4m) patient responded to ICI, suggesting that MBD4 mutation may predict response to ICI.
Mots clés
Hypermutation, Immune checkpoint inhibitor, MBD4, Mutational process, PD-1, PD-L1, Predictive biomarker
Référence
Eur J Cancer. 2022 07 18;173:105-112