Evolutionary Routes in Metastatic Uveal Melanomas Depend on MBD4 Alterations.
Manuel RodriguesLenha MobuchonAlexandre HouySamar AlsafadiSylvain BaulandeOdette MarianiBenjamin MarandeKhadija Ait RaisMonique K Van der KooijEllen H W KapiteijnSieta GassamaSophie GardratRaymond L BarnhillVincent ServoisRémi DendaleMarc PuttermanSarah TickSophie Piperno-NeumannNathalie CassouxGaëlle PierronJoshua J WaterfallSergio Roman-RomanMarc-Henri SternPublished in: Clinical cancer research : an official journal of the American Association for Cancer Research (2019)
MBD4-proficient uveal melanomas are stable at the nucleotide level, without new actionable alterations when metastatic. In contrast, MBD4 deficiency is associated with high genetic heterogeneity and acquisition of new driver mutations. Monosomy 3 is associated with time to relapse rather than rate of relapse, thus opening avenues for a new genetic prognostic classification of uveal melanomas.