학술논문
Hotspot activating PRKD1 somatic mutations in polymorphous low-grade adenocarcinomas of the salivary glands
Document Type
article
Author
Weinreb, Ilan; Piscuoglio, Salvatore; Martelotto, Luciano G; Waggott, Daryl; Ng, Charlotte KY; Perez-Ordonez, Bayardo; Harding, Nicholas J; Alfaro, Javier; Chu, Kenneth C; Viale, Agnes; Fusco, Nicola; da Cruz Paula, Arnaud; Marchio, Caterina; Sakr, Rita A; Lim, Raymond; Thompson, Lester DR; Chiosea, Simion I; Seethala, Raja R; Skalova, Alena; Stelow, Edward B; Fonseca, Isabel; Assaad, Adel; How, Christine; Wang, Jianxin; de Borja, Richard; Chan-Seng-Yue, Michelle; Howlett, Christopher J; Nichols, Anthony C; Wen, Y Hannah; Katabi, Nora; Buchner, Nicholas; Mullen, Laura; Kislinger, Thomas; Wouters, Bradly G; Liu, Fei-Fei; Norton, Larry; McPherson, John D; Rubin, Brian P; Clarke, Blaise A; Weigelt, Britta; Boutros, Paul C; Reis-Filho, Jorge S
Source
Nature Genetics. 46(11)
Subject
Language
Abstract
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.