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.
Hotspot activating PRKD1 somatic mutations in polymorphous low-grade adenocarcinomas of the salivary glands / I. Weinreb, S. Piscuoglio, L.G. Martelotto, D. Waggott, C.K.Y. Ng, B. Perez-Ordonez, N.J. Harding, J. Alfaro, K.C. Chu, A. Viale, N. Fusco, A. da Cruz Paula, C. Marchio, R.A. Sakr, R. Lim, L.D.R. Thompson, S.I. Chiosea, R.R. Seethala, A. Skalova, E.B. Stelow, I. Fonseca, A. Assaad, C. How, J. Wang, R. de Borja, M. Chan-Seng-Yue, C.J. Howlett, A.C. Nichols, Y.H. Wen, N. Katabi, N. Buchner, L. Mullen, T. Kislinger, B.G. Wouters, F. Liu, L. Norton, J.D. Mcpherson, B.P. Rubin, B.A. Clarke, B. Weigelt, P.C. Boutros, J.S. Reis-Filho. - In: NATURE GENETICS. - ISSN 1546-1718. - 46:11(2014 Nov), pp. 1166-1169.
Hotspot activating PRKD1 somatic mutations in polymorphous low-grade adenocarcinomas of the salivary glands
N. Fusco;
2014
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.| File | Dimensione | Formato | |
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