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.
Adenocarcinoma; Amino Acid Sequence; Animals; Humans; Immunohistochemistry; Immunoprecipitation; Mice; Microscopy, Confocal; Molecular Sequence Data; Mutagenesis; Mutation, Missense; NIH 3T3 Cells; Protein Kinase C; Salivary Gland Neoplasms; Sequence Alignment; Sequence Analysis, DNA; Models, Molecular
Settore MED/08 - Anatomia Patologica
nov-2014
Article (author)
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/485609
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