Molecular Landscape of Pediatric Thyroid Cancer: A Review

Thyroid carcinomas (TC) are rare in the pediatric population; however, they constitute the most common endocrine malignancy. Despite some similarities with adult carcinomas, they have distinct clinical behavior and responses to therapy due to their unique pathology and molecular characteristics. The age cut-off used for defining the pediatric age group has been variable across different studies, and the universally accepted recommendations influence accurate interpretation of the available data. Moreover, factors such as radiation exposure and germline mutations have greater impact in children than in adults. Papillary TC is the most common and the most evaluated pediatric TC. Others, including follicular, poorly differentiated and medullary carcinomas, are rarer and have limited available literature. Most studies are from the West. Asian studies are primarily from Japan, with few from China, India, Saudi Arabia and Republic of Korea. This review provides a comprehensive account of the well-established and novel biomarkers in the field, including point mutations, fusions, miRNA, and thyroid differentiation genes. Familial and syndromic associations are also discussed. Current management guidelines for pediatric patients are largely derived from those for adults. An awareness of the molecular landscape is essential to acknowledge the uniqueness of these tumors and establish specific diagnostic and therapeutic guidelines.

Automated summary

Thyroid carcinomas are rare but the most common endocrine malignancy in the pediatric population. They have distinct clinical behavior and responses to therapy due to their unique pathology and molecular characteristics. Papillary thyroid carcinoma is the most common and most studied type in children. Other types, such as follicular, poorly differentiated, and medullary carcinomas, are rarer and have limited literature. Most studies come from the West, with Japan being the primary Asian contributor. This review provides a comprehensive account of established and novel biomarkers, as well as discusses familial and syndromic associations. Current management guidelines for pediatric patients are largely based on those for adults, but understanding the molecular landscape is essential for specific diagnostic and therapeutic guidelines.