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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| Format: | Article |
| Language: | English |
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Wiley
2013-01-01
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| Series: | Case Reports in Oncological Medicine |
| Online Access: | http://dx.doi.org/10.1155/2013/270362 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Anthony C. Nichols |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-de7a2f8b41824da7836d5428cffab371 |
| institution | Kabale University |
| issn | 2090-6706 2090-6714 |
| language | English |
| publishDate | 2013-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Oncological Medicine |
| spelling | doaj-art-de7a2f8b41824da7836d5428cffab3712025-02-03T01:07:30ZengWileyCase Reports in Oncological Medicine2090-67062090-67142013-01-01201310.1155/2013/270362270362A Case Report and Genetic Characterization of a Massive Acinic Cell Carcinoma of the Parotid with Delayed Distant MetastasesAnthony C. Nichols0Michelle Chan-Seng-Yue1John Yoo2Sumit K. Agrawal3Maud H. W. Starmans4Daryl Waggott5Nicholas J. Harding6Samuel A. Dowthwaite7David A. Palma8Kevin Fung9Bret Wehrli10S. Danielle MacNeil11Philippe Lambin12Eric Winquist13James Koropatnick14Joe S. Mymryk15Paul C. Boutros16John W. Barrett17Department 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, CanadaInformatics and Biocomputing Platform, Ontario Institute for Cancer Research, Toronto, ON, M5G 1L7, CanadaDepartment 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, CanadaDepartment 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, CanadaInformatics and Biocomputing Platform, Ontario Institute for Cancer Research, Toronto, ON, M5G 1L7, CanadaInformatics and Biocomputing Platform, Ontario Institute for Cancer Research, Toronto, ON, M5G 1L7, CanadaInformatics and Biocomputing Platform, Ontario Institute for Cancer Research, Toronto, ON, M5G 1L7, CanadaDepartment 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, CanadaLondon Regional Cancer Program, London, ON, N6A 4L6, CanadaDepartment 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, CanadaDepartment of Pathology, The University of Western Ontario, London, ON, N6A 5C1, CanadaDepartment 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, CanadaDepartment of Radiation Oncology (Maastro), GROW School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, The NetherlandsLondon Regional Cancer Program, London, ON, N6A 4L6, CanadaLondon Regional Cancer Program, London, ON, N6A 4L6, CanadaLondon Regional Cancer Program, London, ON, N6A 4L6, CanadaInformatics and Biocomputing Platform, Ontario Institute for Cancer Research, Toronto, ON, M5G 1L7, CanadaDepartment 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, CanadaWe 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.http://dx.doi.org/10.1155/2013/270362 |
| spellingShingle | 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 A Case Report and Genetic Characterization of a Massive Acinic Cell Carcinoma of the Parotid with Delayed Distant Metastases Case Reports in Oncological Medicine |
| title | A Case Report and Genetic Characterization of a Massive Acinic Cell Carcinoma of the Parotid with Delayed Distant Metastases |
| title_full | A Case Report and Genetic Characterization of a Massive Acinic Cell Carcinoma of the Parotid with Delayed Distant Metastases |
| title_fullStr | A Case Report and Genetic Characterization of a Massive Acinic Cell Carcinoma of the Parotid with Delayed Distant Metastases |
| title_full_unstemmed | A Case Report and Genetic Characterization of a Massive Acinic Cell Carcinoma of the Parotid with Delayed Distant Metastases |
| title_short | A Case Report and Genetic Characterization of a Massive Acinic Cell Carcinoma of the Parotid with Delayed Distant Metastases |
| title_sort | case report and genetic characterization of a massive acinic cell carcinoma of the parotid with delayed distant metastases |
| url | http://dx.doi.org/10.1155/2013/270362 |
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