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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Published inCase reports in oncological medicine Vol. 2013; no. 2013; pp. 1 - 7
Main Authors 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., Nichols, Anthony C., Harding, Nicholas J., Waggott, Daryl, Starmans, Maud H. W., Chan-Seng-Yue, Michelle, Yoo, John, Agrawal, Sumit K.
Format Journal Article
LanguageEnglish
Published Cairo, Egypt Hindawi Puplishing Corporation 01.01.2013
Hindawi Publishing Corporation
Hindawi Limited
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Case Report
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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.
AbstractList 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.
Author Koropatnick, James
Yoo, John
Dowthwaite, Samuel A.
Boutros, Paul C.
Wehrli, Bret
Agrawal, Sumit K.
Mymryk, Joe S.
Harding, Nicholas J.
Palma, David A.
Starmans, Maud H. W.
Waggott, Daryl
Nichols, Anthony C.
Lambin, Philippe
Barrett, John W.
Chan-Seng-Yue, Michelle
Fung, Kevin
MacNeil, S. Danielle
Winquist, Eric
AuthorAffiliation 6 Informatics and Biocomputing Platform, Ontario Institute for Cancer Research, Toronto, ON, Canada M5G 1L7
5 Department of Pathology, The University of Western Ontario, London, ON, Canada N6A 5C1
1 Department of Otolaryngology Head and Neck Surgery, The University of Western Ontario, Victoria Hospital, London Health Science Centre, Room B3-431A, 800 Commissioners Road East, London, ON, Canada N6A 5W9
2 London Regional Cancer Program, London, ON, Canada N6A 4L6
7 Department of Radiation Oncology (Maastro), GROW School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, The Netherlands
3 Lawson Health Research Institute, London, ON, Canada N6C 2R5
8 Department of Medical Biophysics, University of Toronto, Toronto, ON, Canada M5G 2M9
4 Department of Oncology, The University of Western Ontario, London, ON, Canada N6A 4L6
9 Department of Pharmacology and Toxicology, University of Toronto, Toronto, ON, Canada M5S 1A8
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Title A Case Report and Genetic Characterization of a Massive Acinic Cell Carcinoma of the Parotid with Delayed Distant Metastases
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