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A case report and genetic characterization of a massive acinic cell carcinoma of the parotid with delayed distant metastases.

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.

SUBMITTER: Nichols AC

PROVIDER: S-EPMC3638544 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature

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A case report and genetic characterization of a massive acinic cell carcinoma of the parotid with delayed distant metastases.

Nichols Anthony C AC Chan-Seng-Yue Michelle M Yoo John J Agrawal Sumit K SK Starmans Maud H W MH Waggott Daryl D Harding Nicholas J NJ Dowthwaite Samuel A SA Palma David A DA Fung Kevin K Wehrli Bret B Macneil S Danielle SD Lambin Philippe P Winquist Eric E Koropatnick James J Mymryk Joe S JS Boutros Paul C PC Barrett John W JW

Case reports in oncological medicine 20130403

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 ...[more]

PMID: 23653877

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