Evaluation of the genetic alterations landscape of differentiated thyroid cancer in children
Related Experiment Video
Updated: Jan 12, 2026
Spontaneous Murine Model of Anaplastic Thyroid Cancer
Published on: February 3, 2023
Ebru Barsal Çetiner1, Mualla Özcan2, Mustafa Aydemir3
1Department of Pediatric Endocrinology, Akdeniz University Hospital, Antalya, Türkiye.
Objectives:
Studies investigating the underlying genetic profile in pediatric patients diagnosed with differentiated thyroid cancer (DTC) are quite limited. This study aimed to identify genetic alterations in patients diagnosed with DTC.
Methods:
A total of 20 patients with confirmed DTC were included in the study; however, five were excluded due to the unavailability of thyroid tumor samples. Somatic mutation analysis of the DICER1, BRAF, KRAS, NRAS, and HRAS genes was performed using next-generation sequencing. In addition, gene fusions involving ALK, RET, PTC, ETV6, and NTRK3 were assessed using fluorescence in situ hybridization. A family screening was also conducted, and thyroid ultrasonography was performed. Fine-needle aspiration biopsy was carried out for family members when deemed necessary.
Results:
The mean age at diagnosis was 14.42 ± 2.88 years. Somatic mutations were identified in nine patients (60 %). The detected mutations were as follows: RET/PTC fusion (n=3), BRAF V600E (n=2), NRAS Q61R (n=1), NRAS A59D (n=1), DICER1 E1705K (n=1), and ETV6/NTRK3 fusion (n=1). No statistically significant differences in prognostic factors were observed between patients with and without somatic mutations. As part of the family screening, suspicious thyroid nodules were detected in four parents. One parent underwent hemithyroidectomy, and final pathology revealed papillary thyroid carcinoma.
Conclusions:
Considering the limited number of similar studies on childhood thyroid cancer, these findings provide a valuable contribution to the existing literature. In particular, the results obtained from family screening may support advancements in early diagnosis, risk stratification, and the development of targeted therapeutic approaches.
Insights
Genetic analysis in pediatric differentiated thyroid cancer (DTC) revealed mutations in 60% of patients, including RET/PTC and BRAF V600E. Family screening identified potential early-stage thyroid cancer in parents, aiding risk stratification.
Area of Science:
- Genetics
- Oncology
- Pediatrics
Background:
- Pediatric differentiated thyroid cancer (DTC) genetic profiles are understudied.
- Understanding genetic alterations is crucial for targeted therapies and risk assessment in young patients.
Purpose of the Study:
- To identify genetic alterations in pediatric DTC patients.
- To investigate the role of specific gene mutations and fusions.
- To assess the utility of family screening for early detection.
Main Methods:
- Next-generation sequencing was used for somatic mutation analysis of DICER1, BRAF, KRAS, NRAS, and HRAS genes in 15 pediatric DTC patients.
- Fluorescence in situ hybridization assessed gene fusions (ALK, RET, PTC, ETV6, NTRK3).
- Family screening included ultrasonography and fine-needle aspiration biopsy when necessary.
Main Results:
- Somatic mutations were found in 60% of patients.
- Common mutations included RET/PTC fusion (n=3), BRAF V600E (n=2), and NRAS mutations (n=2).
- Family screening detected suspicious nodules in four parents, with one diagnosed with papillary thyroid carcinoma.
Conclusions:
- This study contributes valuable genetic insights into pediatric DTC.
- Family screening highlights potential for early diagnosis and risk stratification in affected families.
- Findings may inform the development of targeted therapeutic strategies for childhood thyroid cancer.
