Lobo J, Canete-Portillo S, Pena MDCR, McKenney JK, Aron M, Massicano F, Wilk BM, Gajapathy M, Brown DM, Baydar DE, Matoso A, Rioux-Leclerq N, Pan CC, Tretiakova MS, Trpkov K, Williamson SR, Rais-Bahrami S, Mackinnon AC, Harada S, Worthey EA, Magi-Galluzzi C.
Ten JGCTs from nine institutions underwent immunohistochemistry and whole exome sequencing. Our findings reveal significant morphologic heterogeneity, with JGCTs mimicking various kidney tumor entities. Despite concerning histologic features in three cases, patient outcomes were unremarkable, indicating that morphology alone cannot predict clinical behavior. We identified gain-of-function variants in RAS GTPases without additional recurrent genomic alterations. This represents the largest JGCT series characterized by whole exome sequencing, underscoring the potential role of the MAPK–RAS pathway.
