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Contribution of Germline Predisposition to Pediatric Thyroid Cancer
Claudia Harrison1, Alise K Blake1, Yin Su2
1Department of Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee.
Summary
A significant number of children with thyroid cancer carry cancer-predisposing gene pathogenic variants (PVs). Genetic testing is recommended for pediatric thyroid cancer patients, particularly younger children or those with a history of cancer.
Area of Science:
- Pediatric Oncology
- Cancer Genetics
- Genomic Medicine
Background:
- Pediatric thyroid carcinoma is rare, with limited understanding of its genetic underpinnings.
- Germline genetic factors play a role in cancer predisposition, but their contribution to pediatric thyroid cancer requires further investigation.
Purpose of the Study:
- To determine the prevalence and spectrum of pathogenic variants (PVs) in cancer-predisposing genes (CPGs) in a cohort of children with thyroid carcinoma.
- To correlate germline genetic findings with clinical features, tumor pathology, and patient outcomes.
Main Methods:
- Retrospective analysis of 71 children with thyroid carcinoma who underwent germline genetic testing.
- Evaluation of the proportion of patients with PVs in CPGs.
- Correlation of genetic findings with clinical data, including age at diagnosis, tumor histology, prior cancer history, treatment, and survival.
Main Results:
- Twenty-five percent (18/71) of pediatric thyroid carcinoma patients harbored a PV in a CPG.
- Younger age at diagnosis (<11 years), medullary thyroid carcinoma histology, and a prior cancer history were significantly associated with the presence of PVs.
- RB1-associated tumors occurred in patients without prior chemotherapy or radiotherapy.
Conclusions:
- A substantial proportion of children with thyroid carcinoma carry CPG PVs, highlighting the importance of germline genetics.
- Genetic counseling and testing should be considered for all children diagnosed with thyroid carcinoma, especially those who are young, have medullary histology, or a prior cancer history.
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