Proposed criteria for nevoid basal cell carcinoma syndrome in children assessed using statistical optimization

• Published in: Scientific reports Vol. 11; no. 1; pp. 19791 - 9
• Main Authors: Gold, Nina B., Campbell, Ian M., Sheppard, Sarah E., Tan, Wen-Hann
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 05.10.2021; Nature Publishing Group; Nature Portfolio
• Subjects: 631/208/1516; 692/1807; Adolescent; Adult; Age; Age of Onset; Aged; Basal cell carcinoma; Basal Cell Nevus Syndrome - diagnosis; Basal Cell Nevus Syndrome - epidemiology; Bayes Theorem; Bayesian analysis; Cancer; Carcinoma, Basal Cell - diagnosis; Carcinoma, Basal Cell - epidemiology; Child; Child development; Child, Preschool; Children; Clinical Decision-Making; Complications; Congenital diseases; Disease Management; Families & family life; Family medical history; Female; Genetic disorders; Genetics; Humanities and Social Sciences; Humans; Infant; Infant, Newborn; Male; Middle Aged; multidisciplinary; Optimization; Pediatrics; Phenotypes; Population; Practice Guidelines as Topic; Questionnaires; Retrospective Studies; Science; Science (multidisciplinary); Skin cancer; Statistics; Surveillance; Young Adult
• ISSN: 2045-2322; 2045-2322
• DOI: 10.1038/s41598-021-98752-9

Nevoid basal cell carcinoma syndrome (NBCCS) is a tumor predisposition condition, the cardinal features of which emerge in adolescence or adulthood. Using statistical optimization, this study proposes NBCCS criteria with improved sensitivity in children less than 18 years of age. Earlier detection may lead to improved surveillance and prevention of sequelae. A survey eliciting medical history was completed by, or on behalf of, individuals with NBCCS. Based on these findings, criteria for suspicion of NBCCS in children were suggested using information from a Bernoulli naïve Bayes classifier relying on the human phenotype ontology. The sensitivity and specificity of the existing and proposed diagnostic criteria were also assessed. Participants (n = 48) reported their first signs of NBCCS appeared at a median age of 8 months, but by our retrospective analysis, they did not fulfill the current diagnostic criteria until a median age of 7 years. This study delineates the early-onset features of NBCCS and proposes criteria that should prompt consideration of NBCCS. Additionally, we demonstrate a method for quantitatively assessing the utility of diagnostic criteria for genetic disorders.