ArticleEndocrine connections2019
Somatic genetic alterations in a large cohort of pediatric thyroid nodules.
Article in Endocrine connections, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 2 of them syntheses that pooled it.
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Who cites it
35 citing papers in PubMed, 2 syntheses or guidelines pooled it, 53 citations in OpenAlex.
- Genetic alterations landscape in paediatric thyroid tumours and/or differentiated thyroid cancer: Systematic review.Reviews in endocrine & metabolic disorders · 2024Pooled it
- The role of PPM1D in cancer and advances in studies of its inhibitors.Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie · 2020Pooled it
- Evolving trends in pediatric thyroid nodules and cancer management.Annals of pediatric endocrinology & metabolism · 2026Article
- Genetic modification of the AJCC classification of papillary thyroid cancer: an international, multicentre, retrospective cohort study.The Lancet. Oncology · 2025Article
- Molecular Landscape and Therapeutic Strategies in Pediatric Differentiated Thyroid Carcinoma.Endocrine reviews · 2025Review
- Narrative overview of possible preventive measures for differentiated thyroid carcinomas.Heliyon · 2025Review
- Various genetic alterations observed in both benign and malignant oncocytic (Hürthle cell) neoplasms of the thyroid.CytoJournal · 2025Article
- Prevalent genetic alterations in pediatric thyroid carcinoma: Insights from an Argentinean study.PloS one · 2025Article
- Low-invasive somatic oncogenes and lymph node metastasis in pediatric papillary thyroid cancer: implications for prophylactic central neck dissection.European thyroid journal · 2024Article
- The role of genetic and epigenetic modifications as potential biomarkers in the diagnosis and prognosis of thyroid cancer.Frontiers in oncology · 2024Review
- RET fusion genes in pediatric and adult thyroid carcinomas: cohort characteristics and prognosis.Endocrine-related cancer · 2023Article
- The Evolving Genomic Landscape of Pediatric Papillary Thyroid Cancer.Current opinion in endocrine and metabolic research · 2023Article
- Identification of crucial genes involved in thyroid cancer development.Journal of the Egyptian National Cancer Institute · 2023Review
- The Prognostic Significance of BRAF Gene Analysis in Children and Adolescents with Papillary Thyroid Carcinoma: A Systematic Review and Meta-Analysis.Diagnostics (Basel, Switzerland) · 2023Review
- Article
- Total thyroidectomy can still remain the method of choice in some Bethesda III cases.Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia · 2023Article
- DICER1 Mutations Occur in More Than One-Third of Follicular-Patterned Pediatric Papillary Thyroid Carcinomas and Correlate with a Low-Risk Disease and Female Gender Predilection.Endocrine pathology · 2022Article
- Review
- The clinical aspect of NTRK-fusions in pediatric papillary thyroid cancer.Cancer genetics · 2022Review
- Germline pathogenic variants in cancer risk genes among patients with thyroid cancer and suspected predisposition.Cancer medicine · 2022Article
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Authors and funding
12 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
There is a rise in the incidence of thyroid nodules in pediatric patients. Most of them are benign tissues, but part of them can cause papillary thyroid cancer (PTC). The aim of this study was to detect the mutations in commonly investigated genes as well as in novel PTC-causing genes in thyroid nodules and to correlate the found mutations with clinical and pathological data. The cohort of 113 pediatric samples consisted of 30 benign lesions and 83 PTCs. DNA from samples was used for next-generation sequencing to identify mutations in the following genes: HRAS, KRAS, NRAS, BRAF, IDH1, CHEK2, PPM1D, EIF1AX, EZH1 and for capillary sequencing in case of the TERT promoter. RNA was used for real-time PCR to detect RET/PTC1 and RET/PTC3 rearrangements. Total detection rate of mutations was 5/30 in benign tissues and 35/83 in PTCs. Mutations in RAS genes (HRAS G13R, KRAS G12D, KRAS Q61R, NRAS Q61R) were detected in benign lesions and HRAS Q61R and NRAS Q61K mutations in PTCs. The RET/PTC rearrangement was identified in 18/83 of PTCs and was significantly associated with higher frequency of local and distant metastases. The BRAF V600E mutation was identified in 15/83 of PTCs and significantly correlated with higher age of patients and classical variant of PTC. Germline variants in the genes IDH1, CHEK2 and PPM1D were found. In conclusion, RET/PTC rearrangements and BRAF mutations were associated with different clinical and histopathological features of pediatric PTC. RAS mutations were detected with high frequency in patients with benign nodules; thus, our results suggest that these patients should be followed up intensively.
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