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

Anthony C. Nichols; Michelle Chan-Seng-Yue; John Yoo; Sumit K. Agrawal; Maud H. W. Starmans; Daryl Waggott; Nicholas J. Harding; Samuel A. Dowthwaite; David A. Palma; Kevin Fung; Bret Wehrli; S. Danielle MacNeil; Philippe Lambin; Eric Winquist; James Koropatnick; Joe S. Mymryk; Paul C. Boutros; John W. Barrett

doi:10.1155/2013/270362

Case Reports in Oncological Medicine (Jan 2013)

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

Anthony C. Nichols,
Michelle Chan-Seng-Yue,
John Yoo,
Sumit K. Agrawal,
Maud H. W. Starmans,
Daryl Waggott,
Nicholas J. Harding,
Samuel A. Dowthwaite,
David A. Palma,
Kevin Fung,
Bret Wehrli,
S. Danielle MacNeil,
Philippe Lambin,
Eric Winquist,
James Koropatnick,
Joe S. Mymryk,
Paul C. Boutros,
John W. Barrett

Affiliations

Anthony C. Nichols: 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, N6A 5W9, Canada
Michelle Chan-Seng-Yue: Informatics and Biocomputing Platform, Ontario Institute for Cancer Research, Toronto, ON, M5G 1L7, Canada
John Yoo: 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, N6A 5W9, Canada
Sumit K. Agrawal: 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, N6A 5W9, Canada
Maud H. W. Starmans: Informatics and Biocomputing Platform, Ontario Institute for Cancer Research, Toronto, ON, M5G 1L7, Canada
Daryl Waggott: Informatics and Biocomputing Platform, Ontario Institute for Cancer Research, Toronto, ON, M5G 1L7, Canada
Nicholas J. Harding: Informatics and Biocomputing Platform, Ontario Institute for Cancer Research, Toronto, ON, M5G 1L7, Canada
Samuel A. Dowthwaite: 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, N6A 5W9, Canada
David A. Palma: London Regional Cancer Program, London, ON, N6A 4L6, Canada
Kevin Fung: 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, N6A 5W9, Canada
Bret Wehrli: Department of Pathology, The University of Western Ontario, London, ON, N6A 5C1, Canada
S. Danielle MacNeil: 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, N6A 5W9, Canada
Philippe Lambin: Department of Radiation Oncology (Maastro), GROW School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, The Netherlands
Eric Winquist: London Regional Cancer Program, London, ON, N6A 4L6, Canada
James Koropatnick: London Regional Cancer Program, London, ON, N6A 4L6, Canada
Joe S. Mymryk: London Regional Cancer Program, London, ON, N6A 4L6, Canada
Paul C. Boutros: Informatics and Biocomputing Platform, Ontario Institute for Cancer Research, Toronto, ON, M5G 1L7, Canada
John W. Barrett: 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, N6A 5W9, Canada

DOI: https://doi.org/10.1155/2013/270362
Journal volume & issue: Vol. 2013

Abstract

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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.

Published in Case Reports in Oncological Medicine

ISSN: 2090-6706 (Print); 2090-6714 (Online)
Publisher: Wiley
Country of publisher: United Kingdom
LCC subjects: Medicine: Internal medicine: Neoplasms. Tumors. Oncology. Including cancer and carcinogens
Website: https://onlinelibrary.wiley.com/journal/7583

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