- Nichols, Anthony C;
- Chan-Seng-Yue, Michelle;
- Yoo, John;
- Agrawal, Sumit K;
- Starmans, Maud HW;
- 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
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.