Pediatric laryngeal carcinoma in a heterozygous carrier of Fanconi anemia

Pediatr Blood Cancer. 2017 Aug;64(8). doi: 10.1002/pbc.26463. Epub 2017 Jan 31.

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.

Keywords: Fanconi anemia; HPV; pediatric laryngeal carcinoma.

Publication types

  • Case Reports

MeSH terms

  • Carcinoma, Squamous Cell / genetics*
  • Carcinoma, Squamous Cell / virology
  • Child
  • Fanconi Anemia / genetics
  • Fanconi Anemia Complementation Group C Protein / genetics*
  • Female
  • Head and Neck Neoplasms / genetics*
  • Head and Neck Neoplasms / virology
  • Heterozygote
  • High-Throughput Nucleotide Sequencing
  • Human papillomavirus 16
  • Humans
  • Infectious Disease Transmission, Vertical
  • Laryngeal Neoplasms / genetics*
  • Laryngeal Neoplasms / virology
  • Papillomavirus Infections / complications
  • Papillomavirus Infections / transmission
  • Polymerase Chain Reaction
  • Receptor, Notch1 / genetics
  • Squamous Cell Carcinoma of Head and Neck

Substances

  • FANCC protein, human
  • Fanconi Anemia Complementation Group C Protein
  • NOTCH1 protein, human
  • Receptor, Notch1