title: Tyrosine kinase domain mutations ofEGFRgene in head and neck squamous cell carcinoma.
abstract: BACKGROUND
  Epidermal growth factor receptor (EGFR) is a commonly altered gene that is identified in various cancers, including head and neck squamous cell carcinoma (HNSCC). Therefore,EGFRis a promising molecular marker targeted by monoclonal antibodies and small molecule inhibitors targeting the tyrosine kinase (TK) domain.
  
  
  OBJECTIVE
  The objective of this study was to investigate the spectrum of mutations in exons 18, 19, 20, and 21 of theEGFRgene in HNSCC patients.
  
  
  METHODS
  This retrospective study included 47 confirmed HNSCC cases. Mutations in the TK domain, exons 18, 19, 20, and 21 of theEGFRgene, were detected by Scorpion®chemistry and ARMS®technologies on Rotor-Gene Q real-time polymerase chain reaction.
  
  
  RESULTS
  The tumors exhibited EGFR-TK domain mutations in 57% of cases. Four cases of T790M mutations were reported for the first time among HNSCC patients. Out of the total mutations, L861Q (exon 21), exon 20 insertions and deletions of exon 19 accounted for the majority of mutations (21%, 19%, and 17%, respectively).EGFRmutation status was correlated with the higher grade (P=0.026) and advanced stage (P=0.034) of HNSCC tumors.
  
  
  CONCLUSIONS
  Higher frequency of EGFR-TK domain mutations together with the presence of the T790M mutation suggests that identification of these mutations might streamline the therapy and provide a better prognosis in HNSCC cases.
authors.affiliation: Department of Genetic Research, Institute for Research and Medical Consultation, University of Dammam, Dammam.
authors.forename: Chittibabu
authors.initials: C
authors.lastname: Vatte
authors.affiliation: Department of Internal Medicine, King Fahd Hospital of the University, University of Dammam, Al-Khobar.
authors.forename: Ali M
authors.initials: AM
authors.lastname: Al Amri
authors.affiliation: Department of Genetic Research, Institute for Research and Medical Consultation, University of Dammam, Dammam.
authors.forename: Cyril
authors.initials: C
authors.lastname: Cyrus
authors.affiliation: Department of Genetic Research, Institute for Research and Medical Consultation, University of Dammam, Dammam.
authors.forename: Shahanas
authors.initials: S
authors.lastname: Chathoth
authors.affiliation: Department of Stemcell Research, Institute for Research and Medical Consultation.
authors.forename: Sadananda
authors.initials: S
authors.lastname: Acharya
authors.affiliation: Department of Pathology, King Fahd Hospital of the University, University of Dammam, Al-Khobar.
authors.forename: Tariq Mohammad
authors.initials: TM
authors.lastname: Hashim
authors.affiliation: Department of Internal Medicine, King Fahd Hospital of the University, University of Dammam, Al-Khobar.
authors.forename: Zhara
authors.initials: Z
authors.lastname: Al Ali
authors.affiliation: Department of Internal Medicine, King Fahd Hospital of the University, University of Dammam, Al-Khobar.
authors.forename: Saleh Tawfeeq
authors.initials: ST
authors.lastname: Alshreadah
authors.affiliation: Department of Pathology, King Fahd Hospital of the University, University of Dammam, Al-Khobar.
authors.forename: Ahmed
authors.initials: A
authors.lastname: Alsayyah
authors.affiliation: Department of Biochemistry, College of Medicine, University of Dammam, Dammam, Kingdom of Saudi Arabia.
authors.forename: Amein K
authors.initials: AK
authors.lastname: Al-Ali
keywords: T790M; deletions; insertions; real-time PCR; somatic mutations; therapy