Proposed criteria for nevoid basal cell carcinoma syndrome in children assessed using statistical optimization.
Proposed criteria for nevoid basal cell carcinoma syndrome in children assessed using statistical optimization.
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DOI：
10.1038/s41598-021-98752-9
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发表时间：
2021-10-05
影响因子：
4.6
通讯作者：
Tan WH
中科院分区：
文献类型：
--
作者：
Gold NB;Campbell IM;Sheppard SE;Tan WH
Nevoid基底细胞癌综合征（NBCCS）是一种易患肿瘤的疾病，其主要特征出现在青春期或成年期。通过统计优化，本研究提出了在18岁以下儿童中提高敏感性的NBCCS标准。早期发现可改善对后遗症的监测和预防。由患有NBCCS的个人或其代表完成了一项关于病史的调查。基于这些发现，基于人类表型本体的伯努利naïve贝叶斯分类器的信息提出了儿童NBCCS的怀疑标准。评估了现有和建议的诊断标准的敏感性和特异性。参与者（n = 48）报告他们的第一个NBCCS症状出现在中位年龄8个月，但通过我们的回顾性分析，他们直到中位年龄7岁才符合当前的诊断标准。本研究描述了NBCCS的早期发病特征，并提出了应促使人们考虑NBCCS的标准。此外，我们展示了一种定量评估遗传疾病诊断标准效用的方法。
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.
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