title: Fibroblast growth factor family aberrations as a putative driver of head and neck squamous cell carcinoma in an epidemiologically low-risk patient as defined by targeted sequencing.
abstract: Targeted sequencing of patients with epidemiologically low-risk (ELR) head and neck squamous cell carcinoma (HNSCC) could help identify novel drivers or lost suppressors leading to precision medicine protocols and improved survival rates.
  
  
  
  A patient with ELR-HNSCC was selected for targeted sequencing. We then assessed next generation sequencing cohorts from the Oncomine Powertool Database, which contains pan-cancer data from The Cancer Genome Atlas (TCGA).
  
  
  
  Targeted sequencing revealed fibroblast growth factor receptor-1 (FGFR1) amplifications as a putative driver of the patient's tumor. Patients with HNSCC from TCGA data demonstrated fibroblast growth factor (FGF) family mutations, rearrangements, or amplifications in over 35% of HNSCC cases, with a statistically significant higher frequency in African American populations. FGF alterations were unique from activating phosphatidylinositol 3-kinase (PIK3CA) mutations.
  
  
  
  Together, these data suggest that FGF signaling may be critical for a subset of patients with HNSCC independent of other known pathways and provides rationale for leveraging patients with ELR-HNSCC to define molecular subsets of high-risk HNSCC. © 2016 Wiley Periodicals, Inc. Head Neck 38: E1646-E1652, 2016.
authors: Department of Otolaryngology-Head and Neck Surgery, University of Michigan Medical School, Ann Arbor, Michigan.
authors: Brittny N
authors: BN
authors: Tillman
authors: Department of Otolaryngology-Head and Neck Surgery, University of Michigan Medical School, Ann Arbor, Michigan.
authors: Megan
authors: M
authors: Yanik
authors: Department of Otolaryngology-Head and Neck Surgery, University of Michigan Medical School, Ann Arbor, Michigan.
authors: Andrew C
authors: AC
authors: Birkeland
authors: Department of Pathology, University of Michigan Medical School, Ann Arbor, Michigan.
authors: Chia-Jen
authors: CJ
authors: Liu
authors: Department of Computational Medicine and Bioinformatics, University of Michigan Medical School, Ann Arbor, Michigan.
authors: Daniel H
authors: DH
authors: Hovelson
authors: Department of Pathology, University of Michigan Medical School, Ann Arbor, Michigan.
authors: Andi K
authors: AK
authors: Cani
authors: Department of Pathology, University of Michigan Medical School, Ann Arbor, Michigan.|Department of Urology, University of Michigan Medical School, Ann Arbor, Michigan.|Comprehensive Cancer Center, University of Michigan Medical School, Ann Arbor, Michigan.
authors: Nallasivam
authors: N
authors: Palanisamy
authors: Department of Pathology, University of Michigan Medical School, Ann Arbor, Michigan.
authors: Shannon
authors: S
authors: Carskadon
authors: Department of Otolaryngology-Head and Neck Surgery, University of Michigan Medical School, Ann Arbor, Michigan.|Comprehensive Cancer Center, University of Michigan Medical School, Ann Arbor, Michigan.
authors: Thomas E
authors: TE
authors: Carey
authors: Department of Otolaryngology-Head and Neck Surgery, University of Michigan Medical School, Ann Arbor, Michigan.|Comprehensive Cancer Center, University of Michigan Medical School, Ann Arbor, Michigan.
authors: Carol R
authors: CR
authors: Bradford
authors: Department of Otolaryngology-Head and Neck Surgery, University of Michigan Medical School, Ann Arbor, Michigan.|Department of Pathology, University of Michigan Medical School, Ann Arbor, Michigan.|Department of Urology, University of Michigan Medical School, Ann Arbor, Michigan.|Comprehensive Cancer Center, University of Michigan Medical School, Ann Arbor, Michigan.
authors: Scott A
authors: SA
authors: Tomlins
authors: Department of Pathology, University of Michigan Medical School, Ann Arbor, Michigan.
authors: Jonathan B
authors: JB
authors: McHugh
authors: Department of Otolaryngology-Head and Neck Surgery, University of Michigan Medical School, Ann Arbor, Michigan.|Comprehensive Cancer Center, University of Michigan Medical School, Ann Arbor, Michigan.
authors: Matthew E
authors: ME
authors: Spector
authors: Department of Otolaryngology-Head and Neck Surgery, University of Michigan Medical School, Ann Arbor, Michigan.|Comprehensive Cancer Center, University of Michigan Medical School, Ann Arbor, Michigan.
authors: J Chad
authors: JCh
authors: Brenner
mesh_terms: D002294:Carcinoma, Squamous Cell / Q000235:genetics*; D058534:Class I Phosphatidylinositol 3-Kinases / Q000235:genetics; D056915:DNA Copy Number Variations; D004252:DNA Mutational Analysis; D005260:Female; D005346:Fibroblast Growth Factors / Q000235:genetics*; D015972:Gene Expression Regulation, Neoplastic; D006258:Head and Neck Neoplasms / Q000235:genetics*; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008875:Middle Aged; D009364:Neoplasm Recurrence, Local / Q000628:therapy
chemical_list: D005346:Fibroblast Growth Factors; D058534:Class I Phosphatidylinositol 3-Kinases; C484760:PIK3CA protein, human
keywords: amplification; fibroblast growth factor (FGF); fibroblast growth factor receptor (FGFR); head and neck squamous cell carcinoma (HNSCC); mutant