title: Pediatric laryngeal carcinoma in a heterozygous carrier of Fanconi anemia.
abstract: A case of invasive, keratinizing squamous cell carcinoma of the larynx in an 8-year-old female treated with laryngectomy is presented. Perinatal exposure to human papilloma virus and constitutional heterozygosity for a FANCC mutation were identified, though FANCC heterozygosity is not known to be cancer predisposing. An additional tumor-associated mutation in NOTCH1 was also identified potentially contributing to oncogenesis. This case illustrates an exceedingly rare type of cancer in the pediatric population and discusses diagnostic workup, evaluation of risk factors for head and neck cancer, and treatment options.
authors.affiliation: Division of Oncology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
authors.forename: A M
authors.initials: AM
authors.lastname: D'Souza
authors.affiliation: Department of Otolaryngology, University of Cincinnati Medical Center, Cincinnati, Ohio.
authors.forename: J
authors.initials: J
authors.lastname: Mark
authors.affiliation: Department of Otolaryngology, University of Cincinnati Medical Center, Cincinnati, Ohio.
authors.forename: M
authors.initials: M
authors.lastname: Demarcantonio
authors.affiliation: Department of Pathology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
authors.forename: D
authors.initials: D
authors.lastname: Leino
authors.affiliation: Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
authors.forename: R
authors.initials: R
authors.lastname: Sisson
authors.affiliation: Division of Oncology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
authors.forename: J I
authors.initials: JI
authors.lastname: Geller
mesh_terms: D002294:Carcinoma, Squamous Cell / Q000235:genetics* / Q000821:virology; D002648:Child; D005199:Fanconi Anemia / Q000235:genetics; D052218:Fanconi Anemia Complementation Group C Protein / Q000235:genetics*; D005260:Female; D006258:Head and Neck Neoplasms / Q000235:genetics* / Q000821:virology; D006579:Heterozygote; D059014:High-Throughput Nucleotide Sequencing; D052162:Human papillomavirus 16; D006801:Humans; D018445:Infectious Disease Transmission, Vertical; D007822:Laryngeal Neoplasms / Q000235:genetics* / Q000821:virology; D030361:Papillomavirus Infections / Q000150:complications / Q000635:transmission; D016133:Polymerase Chain Reaction; D051881:Receptor, Notch1 / Q000235:genetics; D000077195:Squamous Cell Carcinoma of Head and Neck
chemical_list: C497651:FANCC protein, human; D052218:Fanconi Anemia Complementation Group C Protein; C497761:NOTCH1 protein, human; D051881:Receptor, Notch1
keywords: Fanconi anemia; HPV; pediatric laryngeal carcinoma