title: Head and neck squamous cell carcinoma: Ambiguous human papillomavirus status, elevated p16, and deleted retinoblastoma 1.
abstract: 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.
  
  
  
  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.
  
  
  
  RB1 alterations may have important prognostic implications, particularly in the context of high p16 expression, in both HPV-positive and HPV-negative HNSCC. © 2016 Wiley Periodicals, Inc. Head Neck 39: E34-E39, 2017.
authors.affiliation: Program in Molecular Therapeutics, Fox Chase Cancer Center, Philadelphia, Pennsylvania.|Molecular and Cell Biology & Genetics Program, Drexel University College of Medicine, Philadelphia, Pennsylvania.
authors.forename: Tim N
authors.initials: TN
authors.lastname: Beck
authors.affiliation: Program in Molecular Therapeutics, Fox Chase Cancer Center, Philadelphia, Pennsylvania.|Department of Medical Oncology, Fox Chase Cancer Center, Philadelphia, Pennsylvania.
authors.forename: Chad H
authors.initials: CH
authors.lastname: Smith
authors.affiliation: Department of Pathology, Fox Chase Cancer Center, Philadelphia, Pennsylvania.
authors.forename: Douglas B
authors.initials: DB
authors.lastname: Flieder
authors.affiliation: Department of Radiation Oncology, Fox Chase Cancer Center, Philadelphia, Pennsylvania.
authors.forename: Thomas J
authors.initials: TJ
authors.lastname: Galloway
authors.affiliation: Program in Molecular Therapeutics, Fox Chase Cancer Center, Philadelphia, Pennsylvania.|Department of Surgical Oncology, Fox Chase Cancer Center, Philadelphia, Pennsylvania.
authors.forename: John A
authors.initials: JA
authors.lastname: Ridge
authors.affiliation: Program in Molecular Therapeutics, Fox Chase Cancer Center, Philadelphia, Pennsylvania.|Molecular and Cell Biology & Genetics Program, Drexel University College of Medicine, Philadelphia, Pennsylvania.
authors.forename: Erica A
authors.initials: EA
authors.lastname: Golemis
authors.affiliation: Program in Molecular Therapeutics, Fox Chase Cancer Center, Philadelphia, Pennsylvania.|Department of Medical Oncology, Fox Chase Cancer Center, Philadelphia, Pennsylvania.
authors.forename: Ranee
authors.initials: R
authors.lastname: Mehra
mesh_terms: D000368:Aged; D001707:Biopsy, Needle; D002294:Carcinoma, Squamous Cell / Q000000981:diagnostic imaging / Q000235:genetics* / Q000628:therapy / Q000821:virology; D059248:Chemoradiotherapy / Q000379:methods; D019941:Cyclin-Dependent Kinase Inhibitor p16 / Q000235:genetics*; D050687:E2F1 Transcription Factor / Q000235:genetics*; D005500:Follow-Up Studies; D017353:Gene Deletion; D006258:Head and Neck Neoplasms / Q000000981:diagnostic imaging / Q000235:genetics* / Q000628:therapy / Q000821:virology; D006801:Humans; D007150:Immunohistochemistry; D017403:In Situ Hybridization; D008297:Male; D027383:Papillomaviridae / Q000235:genetics*; D000077195:Squamous Cell Carcinoma of Head and Neck; D014062:Tongue Neoplasms / Q000000981:diagnostic imaging / Q000235:genetics* / Q000628:therapy / Q000821:virology; D016896:Treatment Outcome
chemical_list: D019941:Cyclin-Dependent Kinase Inhibitor p16; D050687:E2F1 Transcription Factor
keywords: The Cancer Genome Atlas (TCGA); head and neck squamous cell carcinoma; human papillomavirus; p16; retinoblastoma 1 (RB1)