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Molecular diagnostic alterations in squamous cell carcinoma of the head and neck and potential diagnostic applications |
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| Authors: | Jennifer L. Hunt Leon Barnes James S. Lewis Jr 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 |
| Affiliation: | 1. Department of Pathology and Laboratory Services, College of Medicine, University of Arkansas for Medical Sciences, Arkansas, USA 2. Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA 3. Department of Pathology and Immunology and Otolaryngology-Head and Neck Surgery, Washington University School of Medicine, St Louis, Missouri, USA 4. Faculty of Science, Kafrelsheikh University, Kafrelsheikh, Egypt 5. Department of Pathology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands 6. Department of Pathology, Woodland Hills Medical Center, California, USA 7. Department of Anatomic Pathology, Hospital Clinic, University of Barcelona, Barcelona, Spain 8. Department of Pathology, Allegiance Health, Jackson, MI, USA 9. Department of Pathology, Warren Alpert School of Medicine at Brown University, Rhode Island Hospital, Providence, RI, USA 10. Departments of Pathology and Otolaryngology-Head and Neck Surgery, The Johns Hopkins Medical Institutions, Baltimore, MD, USA 11. Department of Otolaryngology, Hospital Universitario Central de Asturias, Oviedo, Spain 12. Instituto Universitario de Oncología del Principado de Asturias, Oviedo, Spain 13. Oral Pathology, School of Dentistry and Dental Hospital, University of Liverpool, Liverpool, UK 14. ENT Clinic, University of Udine, Piazzale S. Maria della Misericordia, I-33100, Udine, Italy 15. Department of Otolaryngology-Head and Neck Surgery, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands |
| 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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