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  • Hotspot activating PRKD1 somatic mutations in polymorphous low-grade adenocarcinomas of the salivary glands.

Hotspot activating PRKD1 somatic mutations in polymorphous low-grade adenocarcinomas of the salivary glands.

Nature genetics (2014-09-23)
Ilan Weinreb, Salvatore Piscuoglio, Luciano G Martelotto, Daryl Waggott, Charlotte K Y Ng, Bayardo Perez-Ordonez, Nicholas J Harding, Javier Alfaro, Kenneth C Chu, Agnes Viale, Nicola Fusco, Arnaud da Cruz Paula, Caterina Marchio, Rita A Sakr, Raymond Lim, Lester D R Thompson, Simion I Chiosea, Raja R Seethala, Alena Skalova, Edward B Stelow, Isabel Fonseca, Adel Assaad, Christine How, Jianxin Wang, Richard de Borja, Michelle Chan-Seng-Yue, Christopher J Howlett, Anthony C Nichols, Y Hannah Wen, Nora Katabi, Nicholas Buchner, Laura Mullen, Thomas Kislinger, Bradly G Wouters, Fei-Fei Liu, Larry Norton, John D McPherson, Brian P Rubin, Blaise A Clarke, Britta Weigelt, Paul C Boutros, Jorge S Reis-Filho
PMID25240283
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.