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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Published inCase reports in oncological medicine Vol. 2013; no. 2013; pp. 1 - 7
Main Authors 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., Nichols, Anthony C., Harding, Nicholas J., Waggott, Daryl, Starmans, Maud H. W., Chan-Seng-Yue, Michelle, Yoo, John, Agrawal, Sumit K.
Format Journal Article
LanguageEnglish
Published Cairo, Egypt Hindawi Puplishing Corporation 01.01.2013
Hindawi Publishing Corporation
Hindawi Limited
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Case Report
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Summary: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.
Bibliography:ObjectType-Article-1
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Academic Editors: J. Itami and D. V. Jones
ISSN:2090-6706
2090-6714
DOI:10.1155/2013/270362