Mutational Profile of HPV-Positive HNSCC

  • Hua Li
  • Jennifer R. GrandisEmail author


This chapter summarizes the mutational profile of head and neck squamous cell cancer (HNSCC) associated with infection of the human papillomavirus (HPV). Focusing on next-generation sequencing studies, the differences between the mutations detected in HPV-positive HNSCC and HPV-negative HNSCC were compared. The low frequency of TP53 mutations in HPV-positive HNSCC and the link between HPV and TP53 are reviewed. A comparison of gene mutations suggests that some genes are frequently mutated in HPV-positive HNSCC, including PIK3CA, FGER3, K-RAS, and MAPK1. While NOTCH1, TP63, and CASP8 are less frequently mutated in HPV-positive HNSCC. This chapter also reviews and compares the recurrent genomic alterations in HPV-positive HNSCC and cervical squamous cell carcinoma (CSCC), a cancer also linked to HPV infection. Finally, a brief review of the genetic alterations in nasopharyngeal carcinoma lined to infection with Epstein–Barr Virus infection is also reviewed.


Head and neck squamous cell cancer Oropharyngeal squamous cell carcinoma Human papillomavirus Gene mutations Mutation frequency TP53 PIK3CA Therapeutic Cervical squamous cell carcinoma Nasopharyngeal carcinoma Epstein–Barr virus 



Protein kinase B


Apolipoprotein B mRNA editing enzyme catalytic polypeptide-like


Additional sex combs like 3




Caspase 8, apoptosis-related cysteine peptidase


Core-binding factor, beta subunit


Cyclin-dependent kinase inhibitor 2A


Cervical squamous cell carcinoma


Cullin 3


Discoidin domain receptor tyrosine kinase 2


DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked


Epstein–Barr Virus


Epidermal growth factor receptor


E74-like factor 3


E1A binding protein p300


v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2


Enhancer of zeste homolog 2


F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase


Fibroblast growth factor receptor 1/3


Harvey rat sarcoma viral oncogene homolog


Head and neck squamous cell carcinoma


Human Papillomavirus


HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase


Kirsten rat sarcoma viral oncogene homolog


Potassium channel, subfamily T, member 2


Leucine rich repeat and Ig domain containing 2


Epstein–Barr virus latent membrane protein 1


Mitogen-activated protein kinase 1


Lysine (K)-specific methyltransferase 2D/C


Mechanistic target of rapamycin


Neurofibromin 1


Notch 1


Nasopharyngeal carcinoma


Nuclear receptor binding SET domain protein 1


Oropharyngeal squamous cell carcinomas




Phosphoinositide-3-kinase, catalytic, alpha polypeptide


Cyclin D1


Phosphatase and tensin homolog




Reverse-phase protein array


Short hairpin RNA


Serine/threonine kinase 11


The Cancer Genome Atlas


Tumor protein p53


Tumor protein p63


Whole-exome sequencing


Zinc finger protein 750


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Copyright information

© Springer International Publishing Switzerland 2015

Authors and Affiliations

  1. 1.Department of Otolaryngology Head and Neck SurgeryUniversity of California, San FranciscoSan FranciscoUSA
  2. 2.Departments of Otolaryngology Head and Neck SurgeryClinical and Translational Science Institute, University of California, San FranciscoSan FranciscoUSA

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