Institute of Laboratory Medicine, Clinical Chemistry and Molecular Diagnostics, University of Leipzig, Leipzig, Germany.
Department Woman and Child Health, Hospital for Children and Adolescents, University of Leipzig, Leipzig, Germany.
J Pediatr Endocrinol Metab. 2021 Sep 21;34(12):1491-1504. doi: 10.1515/jpem-2021-0163. Print 2021 Dec 20.
Medullary thyroid carcinoma (MTC) is a rare malignancy that is effectively curable by surgery. Unlike in adults, hereditary MTC has a predominant role in children. A fast and safe diagnosis is important to assure the good prognosis for the patients. A major cornerstone is the assessment of biomarkers, but the interpretation must respect their pre-, post- and analytical features. Especially calcitonin (Ctn) is a challenging biomarker in daily laboratory diagnostics. However, Ctn is of particular relevance for the diagnostic in MTC. The American Thyroid Association recommends thyroidectomy if the upper reference range of Ctn is exceeded. Interestingly, age-dependent reference ranges for children and adolescents have become available only recently for Ctn assays. With this review, we aim to highlight the importance of a timely diagnosis of MTC in children and adolescents.
Recent developments in pediatric biochemical diagnostics of MTC were summarized. This includes guidance on interpretation of , Ctn, procalcitonin, carcinoembryonic antigen, carbohydrate antigen 19-9, and chromogranin A.
Currently, Ctn is the most investigated biomarker in the diagnosis of MTC in children and adolescents. Other biomarkers as PCT suggest complementary evidence about pediatric MTC but their interpretation based largely on adult's data. A successful treatment of MTC requires, besides results of biomarkers, information about medical history, RET gene analysis and recent guideline knowledge.
More research is required to validate complementary biomarkers of Ctn in children. Additionally, the effect of different confounder on pediatric Ctn levels has to be further clarified.
髓样甲状腺癌（MTC）是一种罕见的恶性肿瘤，通过手术可以有效地治愈。与成人不同，遗传性 MTC 在儿童中占主导地位。快速、安全的诊断对于保证患者的良好预后非常重要。一个主要的基石是评估生物标志物，但必须尊重其预、后和分析特征。特别是降钙素（Ctn）在日常实验室诊断中是一个具有挑战性的生物标志物。然而，Ctn 在 MTC 的诊断中具有特殊的意义。美国甲状腺协会建议，如果 Ctn 的上参考范围超过，就进行甲状腺切除术。有趣的是，最近才为 Ctn 检测提供了儿童和青少年年龄依赖性参考范围。通过这篇综述，我们旨在强调及时诊断儿童和青少年 MTC 的重要性。
总结了小儿 MTC 生化诊断的最新进展。这包括对 Ctn、降钙素原、癌胚抗原、碳水化合物抗原 19-9 和嗜铬粒蛋白 A 的解释的指导。
目前，Ctn 是儿童和青少年 MTC 诊断中研究最多的生物标志物。其他生物标志物如 PCT 提示了有关儿科 MTC 的补充证据，但它们的解释主要基于成人的数据。MTC 的成功治疗需要除了生物标志物的结果外，还需要了解病史、RET 基因分析和最新指南知识。
需要更多的研究来验证 Ctn 的补充生物标志物在儿童中的有效性。此外，还需要进一步澄清不同混杂因素对儿科 Ctn 水平的影响。
