RESUMO
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.
Assuntos
Carcinoma de Células Escamosas/genética , Proteína do Grupo de Complementação C da Anemia de Fanconi/genética , Neoplasias de Cabeça e Pescoço/genética , Neoplasias Laríngeas/genética , Carcinoma de Células Escamosas/virologia , Criança , Anemia de Fanconi/genética , Feminino , Neoplasias de Cabeça e Pescoço/virologia , Heterozigoto , Sequenciamento de Nucleotídeos em Larga Escala , Papillomavirus Humano 16 , Humanos , Transmissão Vertical de Doenças Infecciosas , Neoplasias Laríngeas/virologia , Infecções por Papillomavirus/complicações , Infecções por Papillomavirus/transmissão , Reação em Cadeia da Polimerase , Receptor Notch1/genética , Carcinoma de Células Escamosas de Cabeça e PescoçoRESUMO
An outbreak of keratoconjunctivitis is described which involved at least 186 people; adenovirus type 8 was identified in 50 of the cases. Topical human fibroblast interferon was assessed in a double-blind, placebo-controlled study in which 34 patients participated. Seventeen of the 34 trial patients yielded adenovirus type 8; three were infected with adenovirus type 7. The outbreak was curtailed by control of infection measures: principally careful hand-washing by medical personnel between cases and by discouraging attendance of new cases at the Eye Infirmary. Consequently the trial numbers are small. In addition there was a wide interpatient variation in the severity of infection. Therefore it was not possible to make any statistically valid conclusions concerning the recovery rate of patients receiving interferon or placebo.
