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

الملخص EN

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.