MBD4 deficiency is predictive of response to immune checkpoint inhibitors in metastatic uveal melanoma patients.

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

https://www.ncbi.nlm.nih.gov/pubmed/35863105

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