Background: The understanding of the molecular basis of paediatric thyroid carcinoma has expanded rapidly in the last decade. Most carcinomas are associated with de novo somatic gene alterations that confer distinct clinicopathological characteristics. In comparison to adults, paediatric carcinomas are less commonly associated with point mutations and more commonly with gene fusions, which are characterised by more-invasive disease. Cancer predisposition genes play an important role in a small percentage of tumours, and the family history and the recognition of other syndromic features are key to identifying these patients. Molecular testing platforms for clinical use have been developed and validated in adults, and their use is becoming established in the management of indeterminate thyroid nodules, where they significantly reduce the rates of diagnostic lobectomy. Paediatric data are more limited than adult data, and the role of molecular testing in paediatric thyroid carcinoma management is evolving.Methods: This review describes the current knowledge of molecular alterations in paediatric thyroid carcinomas, evidence supporting molecular testing in clinical practice, and future directions for research.Results and Conclusions: A molecular diagnosis enables the use of molecularly targeted therapies for children and adolescents with advanced or radioiodine-refractory disease. There is also great potential for molecular testing to improve the accuracy of the risk-stratification of paediatric thyroid nodules, reducing surgical intervention and complications without negatively impacting outcomes, and data to support such an approach are emerging.
背景：近十年来，对儿童甲状腺癌分子基础的认识迅速扩展。大多数癌变与新生体细胞基因改变相关，这些改变赋予其独特的临床病理特征。与成人相比，儿童甲状腺癌较少与点突变相关，而更多与基因融合相关，后者通常表现为更具侵袭性的疾病特征。在少数肿瘤中，癌症易感基因起着重要作用，家族史及其他综合征特征的识别是识别这类患者的关键。临床应用的分子检测平台已在成人中得到开发和验证，其在不确定甲状腺结节管理中的应用正逐渐确立，显著降低了诊断性肺叶切除率。相较于成人数据，儿童数据更为有限，分子检测在儿童甲状腺癌管理中的作用仍在发展中。 方法：本综述阐述了当前对儿童甲状腺癌分子改变的认识、支持临床实践中进行分子检测的证据以及未来的研究方向。 结果与结论：分子诊断使得针对晚期或放射性碘难治性疾病的儿童和青少年患者能够应用分子靶向治疗。分子检测在提高儿童甲状腺结节风险分层准确性方面也具有巨大潜力，可在不影响预后的前提下减少手术干预和并发症，支持这一方法的数据正在不断涌现。
Paediatric Thyroid Carcinoma: The Genetic Revolution and Its Implications for Therapy and Outcomes
肿瘤(癌症)患者之家