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Thyroid Cancer in the Pediatric Population
Vera A Paulson1, Erin R Rudzinski2, Douglas S Hawkins3
1Dept. of Laboratory Medicine, University of Washington Medical Center, 1959 NE Pacific St, Box 357110, Seattle, WA 98105, USA. vpauls@uw.edu.
Insights
Pediatric thyroid cancer differs from adult types, often presenting at advanced stages with unique molecular features like gene fusions in papillary thyroid carcinoma. Recognizing these distinctions is key for diagnosis and treatment.
Area of Science:
- Pediatric Oncology
- Molecular Pathology
- Endocrinology
Background:
- Thyroid cancer is rare in children but presents with distinct clinical and molecular profiles compared to adults.
- Pediatric thyroid cancers often exhibit more aggressive, advanced-stage disease at diagnosis.
Purpose of the Study:
- To highlight the unique clinicopathologic and molecular characteristics of pediatric thyroid cancer.
- To emphasize the importance of understanding these differences for diagnostic and therapeutic strategies.
Main Methods:
- Review of clinical, pathological, and molecular data from pediatric thyroid cancer cases.
- Comparison of pediatric thyroid cancer features with those observed in adult populations.
- Analysis of specific molecular alterations, such as gene fusions in papillary thyroid carcinoma.
Main Results:
- Papillary thyroid carcinoma, comprising ~90% of pediatric cases, shows a high frequency of gene fusions.
- These gene fusions are linked to specific histologic subtypes, advanced extrathyroidal extension, and potential targeted therapy options.
- Distinct features are also noted in pediatric follicular and medullary thyroid carcinomas, though less studied.
Conclusions:
- The unique molecular landscape of pediatric thyroid cancer, particularly gene fusions in papillary subtypes, significantly impacts disease presentation and treatment.
- Understanding these differences is crucial for selecting appropriate diagnostic tests and guiding therapeutic recommendations in children.
Abstract:
Thyroid cancer is rare in the pediatric population, but thyroid carcinomas occurring in children carry a unique set of clinical, pathologic, and molecular characteristics. In comparison to adults, children more often present with aggressive, advanced stage disease. This is at least in part due to the underlying biologic and molecular differences between pediatric and adult thyroid cancer. Specifically, papillary thyroid carcinoma (which accounts for approximately 90% of pediatric thyroid cancer) has a high rate of gene fusions which influence the histologic subtypes encountered in pediatric thyroid tumors, are associated with more extensive extrathyroidal disease, and offer unique options for targeted medical therapies. Differences are also seen in pediatric follicular thyroid cancer, although there are few studies of non-papillary pediatric thyroid tumors published in the literature due to their rarity, and in medullary carcinoma, which is most frequently diagnosed in the pediatric population in the setting of prophylactic thyroidectomies for known multiple endocrine neoplasia syndromes. The overall shift in the spectrum of histotypes and underlying molecular alterations common in pediatric thyroid cancer is important to recognize as it may directly influence diagnostic test selection and therapeutic recommendations.
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