title: Genomic alterations in human epidermal growth factor receptor 2 (HER2/ERBB2) in head and neck squamous cell carcinoma.
abstract: Despite recent advances, survival outcomes for those with metastatic or recurrent head and neck squamous cell carcinoma (HNSCC) have remained poor. Novel approaches should be investigated to improve outcomes.
  
  
  
  A retrospective chart review was performed of a patient who presented with a TNM classification III HNSCC of the oropharynx, positive for human papillomavirus (HPV) who had a complete response to a human epidermal growth factor receptor 2 (HER2)-targeted therapy. Amplification rates of HER2 in the HNSCC Cancer Genome Atlas Network (TCGA) dataset and the FoundationOne genomic profiling dataset were evaluated.
  
  
  
  Comprehensive genomic profiling of the tumor obtained from the dermal metastasis identified amplification of HER2. Data from TCGA and FoundationOne showed that the frequency of HER2 alteration was not observed to vary significantly with HPV tumor status.
  
  
  
  This case demonstrates the application of genomic profiling to guide treatments in a patient with HNSCC with advanced metastatic disease refractory to standard of care therapies. © 2016 Wiley Periodicals, Inc. Head Neck 39: E15-E19, 2017.
authors.affiliation: Department of Oncology, The Johns Hopkins University School of Medicine, Baltimore, Maryland.|Department of Otolaryngology-Head and Neck Surgery, The Johns Hopkins University School of Medicine, Baltimore, Maryland.|Department of Head and Neck-Endocrine Oncology, Moffitt Cancer Center & Research Institute, Tampa, Florida.
authors.forename: Christine H
authors.initials: CH
authors.lastname: Chung
authors.affiliation: Foundation Medicine, Cambridge, Massachusetts.
authors.forename: Alexis
authors.initials: A
authors.lastname: Germain
authors.affiliation: Department of Radiology, The Johns Hopkins University School of Medicine, Baltimore, Maryland.
authors.forename: Rathan M
authors.initials: RM
authors.lastname: Subramaniam
authors.affiliation: Foundation Medicine, Cambridge, Massachusetts.
authors.forename: Andreas M
authors.initials: AM
authors.lastname: Heilmann
authors.affiliation: Foundation Medicine, Cambridge, Massachusetts.
authors.forename: Kyle
authors.initials: K
authors.lastname: Fedorchak
authors.affiliation: Foundation Medicine, Cambridge, Massachusetts.
authors.forename: Siraj M
authors.initials: SM
authors.lastname: Ali
authors.affiliation: Foundation Medicine, Cambridge, Massachusetts.
authors.forename: Vincent A
authors.initials: VA
authors.lastname: Miller
authors.affiliation: Department of Pathology, Greater Baltimore Medical Center, Baltimore, Maryland.
authors.forename: Robert A
authors.initials: RA
authors.lastname: Palermo
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, The Johns Hopkins University School of Medicine, Baltimore, Maryland.
authors.forename: Carole
authors.initials: C
authors.lastname: Fakhry
mesh_terms: D002294:Carcinoma, Squamous Cell / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D006801:Humans; D008297:Male; D008875:Middle Aged; D009959:Oropharyngeal Neoplasms / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D018719:Erb-b2 Receptor Tyrosine Kinases / Q000235:genetics*
chemical_list: D018719:Erb-b2 Receptor Tyrosine Kinases; C508053:ERBB2 protein, human
keywords: biomarker; genomic profiling; head and neck squamous cell carcinoma; human epidermal growth factor receptor 2 (HER2); trastuzumab