title: Molecular diagnostic alterations in squamous cell carcinoma of the head and neck and potential diagnostic applications.
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.
authors: Department of Pathology and Laboratory Services, College of Medicine, University of Arkansas for Medical Sciences, Arkansas, USA.
authors: Jennifer L
authors: JL
authors: Hunt
authors: Leon
authors: L
authors: Barnes
authors: James S
authors: JS
authors: Lewis
authors: Magdy E
authors: ME
authors: Mahfouz
authors: Pieter J
authors: PJ
authors: Slootweg
authors: Lester D R
authors: LD
authors: Thompson
authors: Antonio
authors: A
authors: Cardesa
authors: Kenneth O
authors: KO
authors: Devaney
authors: Douglas R
authors: DR
authors: Gnepp
authors: William H
authors: WH
authors: Westra
authors: Juan P
authors: JP
authors: Rodrigo
authors: Julia A
authors: JA
authors: Woolgar
authors: Alessandra
authors: A
authors: Rinaldo
authors: Asterios
authors: A
authors: Triantafyllou
authors: Robert P
authors: RP
authors: Takes
authors: Alfio
authors: A
authors: Ferlito
mesh_terms: D014408:Biomarkers, Tumor / Q000235:genetics*; D002294:Carcinoma, Squamous Cell / Q000175:diagnosis / Q000235:genetics* / Q000821:virology; D058534:Class I Phosphatidylinositol 3-Kinases; D019938:Cyclin D1 / Q000235:genetics; D020031:Epstein-Barr Virus Infections / Q000175:diagnosis; D015972:Gene Expression Regulation, Neoplastic; D018773:Genes, erbB-1; D019942:Genes, p16; D016158:Genes, p53; D011905:Genes, ras; D006258:Head and Neck Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000821:virology; D006801:Humans; D030361:Papillomavirus Infections / Q000175:diagnosis; D019869:Phosphatidylinositol 3-Kinases / Q000235:genetics; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics; D051880:Receptors, Notch / Q000235:genetics; D000077195:Squamous Cell Carcinoma of Head and Neck
chemical_list: D014408:Biomarkers, Tumor; C530104:CCND1 protein, human; D051880:Receptors, Notch; D019938:Cyclin D1; D019869:Phosphatidylinositol 3-Kinases; D058534:Class I Phosphatidylinositol 3-Kinases; C484760:PIK3CA protein, human; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf