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

doi:10.1038/ng.3096

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 journal › Article › peer-review

121 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 language	English (US)
Pages (from-to)	1166-1169
Number of pages	4
Journal	Nature Genetics
Volume	46
Issue number	11
DOIs	https://doi.org/10.1038/ng.3096
State	Published - Nov 5 2014
Externally published	Yes

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

Hotspot activating PRKD1 somatic mutations in polymorphous low-grade adenocarcinomas of the salivary glands. / Weinreb, Ilan; Piscuoglio, Salvatore; Martelotto, Luciano G.; Waggott, Daryl; Ng, Charlotte K Y; 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 D R; 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 Douglas; Rubin, Brian P.; Clarke, Blaise A.; Weigelt, Britta; Boutros, Paul C.; Reis-Filho, Jorge S.

In: Nature Genetics, Vol. 46, No. 11, 05.11.2014, p. 1166-1169.

Research output: Contribution to journal › Article › peer-review

Weinreb, I, Piscuoglio, S, Martelotto, LG, Waggott, D, Ng, CKY, Perez-Ordonez, B, Harding, NJ, Alfaro, J, Chu, KC, Viale, A, Fusco, N, Da Cruz Paula, A, Marchio, C, Sakr, RA, Lim, R, Thompson, LDR, Chiosea, SI, Seethala, RR, Skalova, A, Stelow, EB, Fonseca, I, Assaad, A, How, C, Wang, J, De Borja, R, Chan-Seng-Yue, M, Howlett, CJ, Nichols, AC, Wen, YH, Katabi, N, Buchner, N, Mullen, L, Kislinger, T, Wouters, BG, Liu, FF, Norton, L, Mcpherson, JD, Rubin, BP, Clarke, BA, Weigelt, B, Boutros, PC & Reis-Filho, JS 2014, 'Hotspot activating PRKD1 somatic mutations in polymorphous low-grade adenocarcinomas of the salivary glands', Nature Genetics, vol. 46, no. 11, pp. 1166-1169. https://doi.org/10.1038/ng.3096

Weinreb, Ilan ; Piscuoglio, Salvatore ; Martelotto, Luciano G. ; Waggott, Daryl ; Ng, Charlotte K Y ; 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 D R ; 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 Douglas ; Rubin, Brian P. ; Clarke, Blaise A. ; Weigelt, Britta ; Boutros, Paul C. ; Reis-Filho, Jorge S. / Hotspot activating PRKD1 somatic mutations in polymorphous low-grade adenocarcinomas of the salivary glands. In: Nature Genetics. 2014 ; Vol. 46, No. 11. pp. 1166-1169.

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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.",

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