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.
Highlights
Salivary gland cancers account for 0.3–0.9% of all cancers [1, 2], and acinic cell carcinoma (AciCC) accounts for 5–11% of these [3, 4]
apoptosis stimulating of p53 protein 1 (ASPP1) functions as a tumor suppressor gene and has been shown to be downregulated in breast cancer [25] and leukemia cell lines [26], suggesting that the loss of this gene may play an important role in cancer progression
Recent exome sequencing of head and neck squamous cell carcinoma (HNSCC) has revealed that the mutational landscape of HNSCC is dominated by mutations in tumor suppressor genes, with only rare targetable mutations in oncogenes [28, 29]
Summary
Salivary gland cancers account for 0.3–0.9% of all cancers [1, 2], and acinic cell carcinoma (AciCC) accounts for 5–11% of these [3, 4]. AciCC most commonly arises in the parotid gland and typically presents at an early stage allowing surgical treatment with favorable five-year survival rates in excess of 90% [4]. Approximately 19% of cases present with advanced stage disease, which is associated with a higher rate of distant metastases and poorer survival [4]. To date, this tumor type has not been genetically characterized
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