학술논문
A Case Report and Genetic Characterization of a Massive Acinic Cell Carcinoma of the Parotid with Delayed Distant Metastases
Document Type
article
Author
Anthony C. Nichols; Michelle Chan-Seng-Yue; John Yoo; Sumit K. Agrawal; Maud H. W. Starmans; Daryl Waggott; Nicholas J. Harding; Samuel A. Dowthwaite; David A. Palma; Kevin Fung; Bret Wehrli; S. Danielle MacNeil; Philippe Lambin; Eric Winquist; James Koropatnick; Joe S. Mymryk; Paul C. Boutros; John W. Barrett
Source
Case Reports in Oncological Medicine, Vol 2013 (2013)
Subject
Language
English
ISSN
2090-6706
2090-6714
2090-6714
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.