ArticleEndocrine pathology2021
High Prevalence of DICER1 Mutations and Low Frequency of Gene Fusions in Pediatric Follicular-Patterned Tumors of the Thyroid.
Article in Endocrine pathology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 4 of them syntheses that pooled it.
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Who cites it
31 citing papers in PubMed, 4 syntheses or guidelines pooled it, 42 citations in OpenAlex.
- Mutations of the DICER1 gene among children and adolescents with thyroid cancer: a systematic review.Pediatric research · 2026Pooled it
- DICER1 alterations in thyroid lesions: a systematic review and meta-analysis with clinicopathologic implications.Virchows Archiv : an international journal of pathology · 2026Pooled it
- 2025 American Thyroid Association Management Guidelines for Adult Patients with Differentiated Thyroid Cancer.Thyroid : official journal of the American Thyroid Association · 2025Guideline
- Genetic alterations landscape in paediatric thyroid tumours and/or differentiated thyroid cancer: Systematic review.Reviews in endocrine & metabolic disorders · 2024Pooled it
- Unusual Cytology Features of A DICER1-Mutated Thyroid Nodule: Raising Awareness of A Potential Diagnostic Pitfall During Fine Needle Aspiration.Cytopathology : official journal of the British Society for Clinical Cytology · 2026Article
- Tracing the molecular route to progression in miRNA-biogenesis-defective thyroid lesions.JCI insight · 2026Article
- Unmasking familial follicular cell-derived thyroid neoplasms associated with syndromes: DICER1 and PTEN-hamartoma tumor syndromes.Virchows Archiv : an international journal of pathology · 2026Review
- Somatic Mutational Landscape in Follicular Thyroid Cancer: Insights from AACR GENIE Data.Journal of personalized medicine · 2025Article
- DICER1 and DGCR8 in thyroid tumorigenesis: miRNA biogenesis and histopathologic diversity.European thyroid journal · 2025Review
- Review
- Involvement of KEAP1/NRF2 pathway in non-BRAF mutated squamous cell carcinoma of the thyroid.The Journal of pathology · 2025Article
- An imbalance between proliferation and differentiation underlies the development of microRNA-defective pineoblastoma.Genes & development · 2025Article
- Molecular Landscape and Therapeutic Strategies in Pediatric Differentiated Thyroid Carcinoma.Endocrine reviews · 2025Review
- Refining NTRK Fusion Detection in Papillary Thyroid Carcinoma Through Pan-TRK Immunohistochemistry and Histopathologic Features.Endocrine pathology · 2025Article
- Identification of Oncogenic Alterations in 124 Cases of Pediatric Papillary Thyroid Carcinoma: BEND7::ALK, DLG5::RET, and CCDC30::ROS1 Fusions Induce MAPK Pathway Activation.Endocrine pathology · 2025Article
- Distinctive role ofChinese journal of cancer research = Chung-kuo yen cheng yen chiu · 2024Article
- Clinicopathologic and Molecular Analysis of 15 Pediatric and Young Adult Patients with High-Grade Non-anaplastic Thyroid Carcinoma.Endocrine pathology · 2024Article
- Histological clues of DICER1 mutations in thyroid nodules.Virchows Archiv : an international journal of pathology · 2024Article
- RAS-Mutant Follicular Thyroid Tumors: A Continuous Challenge for Pathologists.Endocrine pathology · 2024Review
- Atrophic changes in thyroid tumors are strong indicators of underlying DICER1 mutations: a bi-institutional genotype-phenotype correlation study.Virchows Archiv : an international journal of pathology · 2024Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
Abstract
Follicular-patterned tumors of the thyroid in the adult population frequently harbor RAS mutations or PAX8-PPARG rearrangement, but little is known about molecular profiles in the pediatric patients with thyroid tumors, which is rare. To identify the molecular profile of pediatric follicular-patterned tumors, we enrolled 41 pediatric patients with follicular-patterned tumors from two institutions. We did next-generation sequencing using a mutation panel targeting 49 thyroid-tumor-related genes and a fusion panel targeting 88 types of thyroid-related gene fusions. We identified nonsynonymous mutations in at least one target gene in most of the tumors (28/41, 68%). Somatic DICER1 mutations (22%, n = 9) were the most common genetic alteration, followed by mutations of NRAS (15%), FGFR3 (15%), PTEN (12%), and STK11 (10%). Infrequent genetic alterations (≤ 5% of all cases) included mutations of HRAS, APC, TSHR, CTNNB1, TP53, EIF1AX, FGFR4, GNAS, RET, and SOS1, and gene fusion of THADA-IGF2BP3. DICER1 and RAS mutations were mutually exclusive. No patients had tumors related to the DICER1 syndrome or the Cowden syndrome. There was no significant difference in total mutation burden or distribution between follicular adenoma and follicular carcinoma. In the literature, the DICER1 mutation has been reported in 20 to 53% of pediatric patients with follicular-patterned tumors. In conclusion, our study reinforces the role of the DICER1 mutation in the development of pediatric thyroid tumors. Gene fusions rarely occur in pediatric follicular-patterned tumors. Mutation or gene fusion alone could not distinguish benign from malignant follicular-patterned tumors in pediatric patients.
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