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

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. StelowIsabel 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 Douglas Mcpherson, Brian P. Rubin, Blaise A. Clarke, Britta Weigelt, Paul C. Boutros, Jorge S. Reis-Filho

Research output: Contribution to journalArticle

116 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)1166-1169
Number of pages4
JournalNature Genetics
Volume46
Issue number11
DOIs
StatePublished - Nov 5 2014
Externally publishedYes

ASJC Scopus subject areas

  • Genetics

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    Weinreb, I., Piscuoglio, S., Martelotto, L. G., Waggott, D., Ng, C. K. Y., Perez-Ordonez, B., Harding, N. J., Alfaro, J., Chu, K. C., Viale, A., Fusco, N., Da Cruz Paula, A., Marchio, C., Sakr, R. A., Lim, R., Thompson, L. D. R., Chiosea, S. I., Seethala, R. R., Skalova, A., ... Reis-Filho, J. S. (2014). Hotspot activating PRKD1 somatic mutations in polymorphous low-grade adenocarcinomas of the salivary glands. Nature Genetics, 46(11), 1166-1169. https://doi.org/10.1038/ng.3096