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

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Abstract

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.

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Authors and Affiliations

  1. Department of Pathology and Laboratory Services, College of Medicine, University of Arkansas for Medical Sciences, Arkansas, USA

    Jennifer L. Hunt

  2. Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA

    Leon Barnes

  3. Department of Pathology and Immunology and Otolaryngology-Head and Neck Surgery, Washington University School of Medicine, St Louis, Missouri, USA

    James S. Lewis Jr

  4. Faculty of Science, Kafrelsheikh University, Kafrelsheikh, Egypt

    Magdy E. Mahfouz

  5. Department of Pathology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

    Pieter J. Slootweg

  6. Department of Pathology, Woodland Hills Medical Center, California, USA

    Lester D. R. Thompson

  7. Department of Anatomic Pathology, Hospital Clinic, University of Barcelona, Barcelona, Spain

    Antonio Cardesa

  8. Department of Pathology, Allegiance Health, Jackson, MI, USA

    Kenneth O. Devaney

  9. Department of Pathology, Warren Alpert School of Medicine at Brown University, Rhode Island Hospital, Providence, RI, USA

    Douglas R. Gnepp

  10. Departments of Pathology and Otolaryngology-Head and Neck Surgery, The Johns Hopkins Medical Institutions, Baltimore, MD, USA

    William H. Westra

  11. Department of Otolaryngology, Hospital Universitario Central de Asturias, Oviedo, Spain

    Juan P. Rodrigo

  12. Instituto Universitario de Oncología del Principado de Asturias, Oviedo, Spain

    Juan P. Rodrigo

  13. Oral Pathology, School of Dentistry and Dental Hospital, University of Liverpool, Liverpool, UK

    Julia A. Woolgar & Asterios Triantafyllou

  14. ENT Clinic, University of Udine, Piazzale S. Maria della Misericordia, I-33100, Udine, Italy

    Alessandra Rinaldo & Alfio Ferlito

  15. Department of Otolaryngology-Head and Neck Surgery, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands

    Robert P. Takes

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  1. Jennifer L. Hunt
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  2. Leon Barnes
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  16. Alfio Ferlito
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Correspondence to Alfio Ferlito.

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This paper was written by members of the International Head and Neck Scientific Group (www.IHNSG.com).

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Hunt, J.L., Barnes, L., Lewis, J.S. et al. Molecular diagnostic alterations in squamous cell carcinoma of the head and neck and potential diagnostic applications. Eur Arch Otorhinolaryngol 271, 211–223 (2014). https://doi.org/10.1007/s00405-013-2400-9

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  • DOI: https://doi.org/10.1007/s00405-013-2400-9

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