A Case Report and Genetic Characterization of a Massive Acinic Cell Carcinoma of the Parotid with Delayed Distant Metastases

We describe the presentation, management, and clinical outcome of a massive acinic cell carcinoma of the parotid gland. The primary tumor and blood underwent exome sequencing which revealed deletions in CDKN2A as well as PPP1R13B, which induces p53. A damaging nonsynonymous mutation was noted in EP3...

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Autores principales: Nichols, Anthony C., Chan-Seng-Yue, Michelle, Yoo, John, Agrawal, Sumit K., Starmans, Maud H. W., Waggott, Daryl, Harding, Nicholas J., Dowthwaite, Samuel A., Palma, David A., Fung, Kevin, Wehrli, Bret, MacNeil, S. Danielle, Lambin, Philippe, Winquist, Eric, Koropatnick, James, Mymryk, Joe S., Boutros, Paul C., Barrett, John W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3638544/
https://www.ncbi.nlm.nih.gov/pubmed/23653877
http://dx.doi.org/10.1155/2013/270362
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author Nichols, Anthony C.
Chan-Seng-Yue, Michelle
Yoo, John
Agrawal, Sumit K.
Starmans, Maud H. W.
Waggott, Daryl
Harding, Nicholas J.
Dowthwaite, Samuel A.
Palma, David A.
Fung, Kevin
Wehrli, Bret
MacNeil, S. Danielle
Lambin, Philippe
Winquist, Eric
Koropatnick, James
Mymryk, Joe S.
Boutros, Paul C.
Barrett, John W.
author_facet Nichols, Anthony C.
Chan-Seng-Yue, Michelle
Yoo, John
Agrawal, Sumit K.
Starmans, Maud H. W.
Waggott, Daryl
Harding, Nicholas J.
Dowthwaite, Samuel A.
Palma, David A.
Fung, Kevin
Wehrli, Bret
MacNeil, S. Danielle
Lambin, Philippe
Winquist, Eric
Koropatnick, James
Mymryk, Joe S.
Boutros, Paul C.
Barrett, John W.
author_sort Nichols, Anthony C.
collection PubMed
description We describe the presentation, management, and clinical outcome of a massive acinic cell carcinoma of the parotid gland. The primary tumor and blood underwent exome sequencing which revealed deletions in CDKN2A as well as PPP1R13B, which induces p53. A damaging nonsynonymous mutation was noted in EP300, a histone acetylase which plays a role in cellular proliferation. This study provides the first insights into the genetic underpinnings of this cancer. Future large-scale efforts will be necessary to define the mutational landscape of salivary gland malignancies to identify therapeutic targets and biomarkers of treatment failure.
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spelling pubmed-36385442013-05-07 A Case Report and Genetic Characterization of a Massive Acinic Cell Carcinoma of the Parotid with Delayed Distant Metastases Nichols, Anthony C. Chan-Seng-Yue, Michelle Yoo, John Agrawal, Sumit K. Starmans, Maud H. W. Waggott, Daryl Harding, Nicholas J. Dowthwaite, Samuel A. Palma, David A. Fung, Kevin Wehrli, Bret MacNeil, S. Danielle Lambin, Philippe Winquist, Eric Koropatnick, James Mymryk, Joe S. Boutros, Paul C. Barrett, John W. Case Rep Oncol Med Case Report We describe the presentation, management, and clinical outcome of a massive acinic cell carcinoma of the parotid gland. The primary tumor and blood underwent exome sequencing which revealed deletions in CDKN2A as well as PPP1R13B, which induces p53. A damaging nonsynonymous mutation was noted in EP300, a histone acetylase which plays a role in cellular proliferation. This study provides the first insights into the genetic underpinnings of this cancer. Future large-scale efforts will be necessary to define the mutational landscape of salivary gland malignancies to identify therapeutic targets and biomarkers of treatment failure. Hindawi Publishing Corporation 2013 2013-04-03 /pmc/articles/PMC3638544/ /pubmed/23653877 http://dx.doi.org/10.1155/2013/270362 Text en Copyright © 2013 Anthony C. Nichols et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Nichols, Anthony C.
Chan-Seng-Yue, Michelle
Yoo, John
Agrawal, Sumit K.
Starmans, Maud H. W.
Waggott, Daryl
Harding, Nicholas J.
Dowthwaite, Samuel A.
Palma, David A.
Fung, Kevin
Wehrli, Bret
MacNeil, S. Danielle
Lambin, Philippe
Winquist, Eric
Koropatnick, James
Mymryk, Joe S.
Boutros, Paul C.
Barrett, John W.
A Case Report and Genetic Characterization of a Massive Acinic Cell Carcinoma of the Parotid with Delayed Distant Metastases
title A Case Report and Genetic Characterization of a Massive Acinic Cell Carcinoma of the Parotid with Delayed Distant Metastases
title_full A Case Report and Genetic Characterization of a Massive Acinic Cell Carcinoma of the Parotid with Delayed Distant Metastases
title_fullStr A Case Report and Genetic Characterization of a Massive Acinic Cell Carcinoma of the Parotid with Delayed Distant Metastases
title_full_unstemmed A Case Report and Genetic Characterization of a Massive Acinic Cell Carcinoma of the Parotid with Delayed Distant Metastases
title_short A Case Report and Genetic Characterization of a Massive Acinic Cell Carcinoma of the Parotid with Delayed Distant Metastases
title_sort case report and genetic characterization of a massive acinic cell carcinoma of the parotid with delayed distant metastases
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3638544/
https://www.ncbi.nlm.nih.gov/pubmed/23653877
http://dx.doi.org/10.1155/2013/270362
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