Abstract：
Differentiated thyroid cancer (DTC) is a rare disease in the paediatric population (≤ 18 years old. at diagnosis). Increasing incidence is reflected by increases in incidence for papillary thyroid carcinoma (PTC) subtypes. Compared to those of adults, despite aggressive presentation, paediatric DTC has an excellent prognosis. As for adult DTC, European and American guidelines recommend individualised management, based on the differences in clinical presentation and genetic findings. Therefore, we conducted a systematic review to identify the epidemiological landscape of all genetic alterations so far investigated in paediatric populations at diagnosis affected by thyroid tumours and/or DTC that have improved and/or informed preventive and/or curative diagnostic and prognostic clinical conduct globally. Fusions involving the gene RET followed by NTRK, ALK and BRAF, were the most prevalent rearrangements found in paediatric PTC. BRAF V600E was found at lower prevalence in paediatric (especially ≤ 10 years old) than in adults PTC. We identified TERT and RAS mutations at very low prevalence in most countries. DICER1 SNVs, while found at higher prevalence in few countries, they were found in both benign and DTC. Although the precise role of DICER1 is not fully understood, it has been hypothesised that additional genetic alterations, similar to that observed for RAS gene, might be required for the malignant transformation of these nodules. Regarding aggressiveness, fusion oncogenes may have a higher growth impact compared with BRAF V600E. We reported the shortcomings of the systematized research and outlined three key recommendations for global authors to improve and inform precision health approaches, glocally.
摘要：
分化型甲状腺癌（DTC）是儿科人群（≤18岁）中的一种罕见疾病。在诊断时）。甲状腺乳头状癌（PTC）亚型的发病率增加反映了发病率的增加。与成年人相比，尽管积极的介绍，儿科DTC预后良好。至于成人DTC，欧洲和美国指南建议个性化管理，基于临床表现和遗传结果的差异。因此,我们进行了系统评价,以确定迄今为止在诊断为甲状腺肿瘤和/或DTC影响的儿科人群中调查的所有遗传改变的流行病学情况,这些人群在全球范围内改善和/或告知了预防性和/或治愈性诊断和预后性临床行为.涉及基因RET的融合，然后是NTRK，ALK和BRAF,是儿科PTC中最普遍的重排。发现BRAFV600E在儿科（尤其是≤10岁）的患病率低于成人PTC。我们发现TERT和RAS突变在大多数国家的患病率非常低。DICER1SNV,虽然在少数国家发现患病率较高，它们在良性和DTC中都被发现。尽管DICER1的确切作用尚未完全了解，有人假设额外的遗传改变，类似于观察到的RAS基因，可能需要这些结节的恶性转化。关于侵略性，与BRAFV600E相比，融合癌基因可能具有更高的生长影响。我们报告了系统化研究的缺点，并概述了全球作者改进和告知精确健康方法的三个关键建议。glocally。
