The molecular makeup of differentiated thyroid carcinoma in a free-standing children's hospital with a predominantly Hispanic population.

Abstract

Objectives: Molecular testing is commonly used to guide thyroid cancer management in adults, but its role in adolescents remains unclear. This study examines the molecular profile of differentiated thyroid carcinoma (DTC) in a predominantly Hispanic pediatric population, aiming to correlate genetic variations with clinical behavior and improve treatment outcomes.

Methods: A single-center retrospective study included 59 patients aged 8-20 years with DTC. Data on demographics, pathology, and molecular testing from surgical specimens were analyzed using analysis of variance (ANOVA) and chi-squared tests.

Results: Among the 59 patients, the average age was 14 years, with 76.2 % female and 88.1 % Hispanic. Autoimmune thyroiditis was present in nearly half the cohort. Tumor sizes mainly ranged between 1 and 4 cm, and the classical subtype of DTC was the most common subtype. Molecular testing identified mutations in 37 out of 41 samples, the most prevalent being BRAF V600E and RET/PTC rearrangements. Extrathyroidal invasion and angioinvasion were especially notable among RET/PTC rearrangements. Lymph node metastases were more frequently observed in patients with BRAF V600E and RET/PTC rearrangements. This suggests a possible association between mutation type and metastatic behavior despite the lack of a statistically significant difference between groups.

Conclusions: In this Hispanic pediatric cohort, BRAF V600E and RET/PTC rearrangements were the most observed mutations. BRAF V600E was associated with lymph node metastases and the classical papillary thyroid carcinoma subtype, whereas RET/PTC rearrangements exhibited more aggressive features like distant metastases. This study highlights the role of molecular profiling in understanding the unique molecular features of pediatric DTC across ethnically diverse populations.