Hotspot activating PRKD1 somatic mutations in polymorphous low-grade adenocarcinomas of the salivary glands.
Ilan WeinrebSalvatore PiscuoglioLuciano G MartelottoDaryl WaggottCharlotte K Y NgBayardo Perez-OrdonezNicholas J HardingJavier AlfaroKenneth C ChuAgnes VialeNicola FuscoArnaud da Cruz PaulaCaterina MarchioRita A SakrRaymond LimLester D R ThompsonSimion I ChioseaRaja R SeethalaAlena SkalovaEdward B StelowIsabel FonsecaAdel AssaadChristine HowJianxin WangRichard J de BorjaMichelle Chan-Seng-YueChristopher J HowlettAnthony C NicholsY Hannah WenNora KatabiNicholas BuchnerLaura MullenThomas KislingerBradly G WoutersFei-Fei LiuLarry NortonJohn D McPhersonBrian P RubinBlaise A ClarkeBritta WeigeltPaul C BoutrosJorge S Reis-FilhoPublished in: Nature genetics (2014)
Polymorphous low-grade adenocarcinoma (PLGA) is the second most frequent type of malignant tumor of the minor salivary glands. We identified PRKD1 hotspot mutations encoding p.Glu710Asp in 72.9% of PLGAs but not in other salivary gland tumors. Functional studies demonstrated that this kinase-activating alteration likely constitutes a driver of PLGA.