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

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 EP3...

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Detalles Bibliográficos
Autores principales: Nichols, Anthony C., Chan-Seng-Yue, Michelle, Yoo, John, Agrawal, Sumit K., Starmans, Maud H. W., 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3638544/
https://www.ncbi.nlm.nih.gov/pubmed/23653877
http://dx.doi.org/10.1155/2013/270362
Descripción
Sumario: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.

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