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Head and neck squamous cell carcinoma: Ambiguous human papillomavirus status, elevated p16, and deleted retinoblastoma 1
Head Neck. 2017 Mar;39(3) :E34-E39
PMID: 27859938    PMCID: PMC5439525    URL: https://www.ncbi.nlm.nih.gov/pubmed/27859938
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BACKGROUND: Head and neck squamous cell carcinoma (HNSCC) is potentially curable, but treatment planning remains a challenge. Oncogenic human papillomavirus (HPV)-positive disease is often associated with a good prognosis compared with HPV-negative disease. However, some HPV-positive HNSCC recurs, often with distant metastases and significant treatment resistance. METHODS AND RESULTS: We performed p16 immunohistochemistry (IHC), in situ hybridization (ISH) for high-risk HPV, and comprehensive genomic profiling on oropharyngeal HNSCC with basaloid features and particularly aggressive disease course, noting a rare genetic event: a deleting mutation (exons 5-17) of the tumor suppressor and dominant cell cycle regulator retinoblastoma 1 (RB1). Genomic and transcriptomic data available through FoundationOne and The Cancer Genome Atlas (TCGA) were reviewed for additional HNSCC cases with RB1 alterations. CONCLUSION: RB1 alterations may have important prognostic implications, particularly in the context of high p16 expression, in both HPV-positive and HPV-negative HNSCC. (c) 2016 Wiley Periodicals, Inc. Head Neck 39: E34-E39, 2017.
Beck, Tim N Smith, Chad H Flieder, Douglas B Galloway, Thomas J Ridge, John A Golemis, Erica A Mehra, Ranee eng Case Reports 2016/11/20 06:00 Head Neck. 2017 Mar;39(3):E34-E39. doi: 10.1002/hed.24604. Epub 2016 Nov 8.