A Case Report and Genetic Characterization of a Massive Acinic Cell Carcinoma of the Parotid with Delayed Distant Metastases. (3rd April 2013)

• Record Type: Journal Article
• Authors: 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.
• Other Names: Itami J. Academic Editor.; Jones D. V. Academic Editor.
• Is Part Of: Case reports in oncological medicine. Volume 2013(2013)
• Publication Date: 2013-04-03
• Subjects: Oncology -- Periodicals; Tumors -- Periodicals; Oncology -- Case studies -- Periodicals; Neoplasms; Oncology; Tumors; Electronic journals; Periodicals; Case studies; Periodicals; Case Reports; Fulltext; Internet Resources; Periodicals; 616.994
• DOI: 10.1155/2013/270362
• Languages: English
• ISSNs: 2090-6706

Abstract

Abstract : 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.