European Archives of Oto-Rhino-Laryngology

, Volume 271, Issue 2, pp 211–223 | Cite as

Molecular diagnostic alterations in squamous cell carcinoma of the head and neck and potential diagnostic applications

  • Jennifer L. Hunt
  • Leon Barnes
  • James S. LewisJr
  • Magdy E. Mahfouz
  • Pieter J. Slootweg
  • Lester D. R. Thompson
  • Antonio Cardesa
  • Kenneth O. Devaney
  • Douglas R. Gnepp
  • William H. Westra
  • Juan P. Rodrigo
  • Julia A. Woolgar
  • Alessandra Rinaldo
  • Asterios Triantafyllou
  • Robert P. Takes
  • Alfio Ferlito
Review Article


Head and neck squamous cell carcinoma (HNSCC) is a common malignancy that continues to be difficult to treat and cure. In many organ systems and tumor types, there have been significant advances in the understanding of the molecular basis for tumorigenesis, disease progression and genetic implications for therapeutics. Although tumorigenesis pathways and the molecular etiologies of HNSCC have been extensively studied, there are still very few diagnostic clinical applications used in practice today. This review discusses current clinically applicable molecular markers, including viral detection of Epstein–Barr virus and human papillomavirus, and molecular targets that are used in diagnosis and management of HNSCC. The common oncogenes EGFR, RAS, CCND1, BRAF, and PIK3CA and tumor suppressor genes p53, CDKN2A and NOTCH are discussed for their associations with HNSCC. Discussion of markers with potential future applications is also included, with a focus on molecular alterations associated with targeted therapy resistance.


Head and neck squamous cell carcinoma Carcinogenesis Molecular biology Diagnostic test Targeted therapy Oncogenes Tumor suppressor genes Gene expression 


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Copyright information

© Springer-Verlag Berlin Heidelberg 2013

Authors and Affiliations

  • Jennifer L. Hunt
    • 1
  • Leon Barnes
    • 2
  • James S. LewisJr
    • 3
  • Magdy E. Mahfouz
    • 4
  • Pieter J. Slootweg
    • 5
  • Lester D. R. Thompson
    • 6
  • Antonio Cardesa
    • 7
  • Kenneth O. Devaney
    • 8
  • Douglas R. Gnepp
    • 9
  • William H. Westra
    • 10
  • Juan P. Rodrigo
    • 11
    • 12
  • Julia A. Woolgar
    • 13
  • Alessandra Rinaldo
    • 14
  • Asterios Triantafyllou
    • 13
  • Robert P. Takes
    • 15
  • Alfio Ferlito
    • 14
  1. 1.Department of Pathology and Laboratory Services, College of MedicineUniversity of Arkansas for Medical SciencesArkansasUSA
  2. 2.Department of PathologyUniversity of Pittsburgh School of MedicinePittsburghUSA
  3. 3.Department of Pathology and Immunology and Otolaryngology-Head and Neck SurgeryWashington University School of MedicineMissouriUSA
  4. 4.Faculty of ScienceKafrelsheikh UniversityKafrelsheikhEgypt
  5. 5.Department of PathologyRadboud University Nijmegen Medical CentreNijmegenThe Netherlands
  6. 6.Department of PathologyWoodland Hills Medical CenterCaliforniaUSA
  7. 7.Department of Anatomic Pathology, Hospital ClinicUniversity of BarcelonaBarcelonaSpain
  8. 8.Department of PathologyAllegiance HealthJacksonUSA
  9. 9.Department of PathologyWarren Alpert School of Medicine at Brown University, Rhode Island HospitalProvidenceUSA
  10. 10.Departments of Pathology and Otolaryngology-Head and Neck SurgeryThe Johns Hopkins Medical InstitutionsBaltimoreUSA
  11. 11.Department of OtolaryngologyHospital Universitario Central de AsturiasOviedoSpain
  12. 12.Instituto Universitario de Oncología del Principado de AsturiasOviedoSpain
  13. 13.Oral Pathology, School of Dentistry and Dental HospitalUniversity of LiverpoolLiverpoolUK
  14. 14.ENT ClinicUniversity of UdineUdineItaly
  15. 15.Department of Otolaryngology-Head and Neck SurgeryRadboud University Nijmegen Medical CenterNijmegenThe Netherlands

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