Lai Sin-Ting Tiffany, Bauer Andrew J
Division of Endocrinology, Children's Hospital of Philadelphia.
University of Pennsylvania School of Medicine.
J Clin Endocrinol Metab. 2025 Feb 13. doi: 10.1210/clinem/dgaf090.
Thyroid nodules in pediatrics carry a higher risk for thyroid carcinoma, and the risk of malignancy in indeterminate thyroid nodules is higher when compared to adults. Despite a substantial increase in the incidence of pediatric thyroid carcinoma since the 1990s, the 30-year disease survival remains >98% in pediatrics. The goal of thyroid nodule management focuses on reducing comorbidity of care while maintaining remission from disease as well as low disease-specific mortality. In 2014, the Cancer Genome Atlas introduced the concept that molecular subtypes better predict the invasive behavior of papillary thyroid carcinoma compared to pathological classification alone. Recent advancements in the understanding of the genetic landscape of pediatric thyroid carcinoma support the potential utility of incorporating somatic oncogene analysis to evaluate and manage thyroid nodules and thyroid carcinoma. In this "Approach to the Pediatric Patient", we review the risk factors of differentiated thyroid carcinoma and present an integrative approach to evaluating and managing thyroid nodules in pediatric patients, incorporating sonographic and cytopathologic findings with somatic oncogene analysis. We illustrate the potential clinical application of knowledge on somatic oncogenic drivers to improve the pre-operative accuracy in diagnosing differentiated thyroid carcinoma and present an integrative analysis paradigm designed to individualize the surgical approach of pediatric patients with thyroid nodules and differentiated thyroid carcinoma.
儿童甲状腺结节患甲状腺癌的风险更高,与成人相比,不确定的甲状腺结节发生恶性病变的风险也更高。尽管自20世纪90年代以来儿童甲状腺癌的发病率大幅上升,但儿童甲状腺癌30年的疾病生存率仍超过98%。甲状腺结节管理的目标是在维持疾病缓解以及降低疾病特异性死亡率的同时,减少护理合并症。2014年,癌症基因组图谱提出了一个概念,即与单纯的病理分类相比,分子亚型能更好地预测甲状腺乳头状癌的侵袭行为。对儿童甲状腺癌基因图谱认识的最新进展支持了将体细胞癌基因分析纳入评估和管理甲状腺结节及甲状腺癌的潜在实用性。在这篇“儿科患者诊疗方法”中,我们回顾了分化型甲状腺癌的危险因素,并提出一种综合方法来评估和管理儿科患者的甲状腺结节,将超声和细胞病理学检查结果与体细胞癌基因分析相结合。我们阐述了关于体细胞致癌驱动因素的知识在提高分化型甲状腺癌术前诊断准确性方面的潜在临床应用,并提出了一种综合分析模式,旨在使患有甲状腺结节和分化型甲状腺癌的儿科患者的手术方法个体化。