ArticleVirchows Archiv : an international journal of pathology2022
Expanding the spectrum of thyroid carcinoma with somatic DICER1 mutation: a survey of 829 thyroid carcinomas using MSK-IMPACT next-generation sequencing platform.
Article in Virchows Archiv : an international journal of pathology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 39 citations in OpenAlex.
- 2025 American Thyroid Association Management Guidelines for Adult Patients with Differentiated Thyroid Cancer.Thyroid : official journal of the American Thyroid Association · 2025Guideline
- Unmasking familial follicular cell-derived thyroid neoplasms associated with syndromes: DICER1 and PTEN-hamartoma tumor syndromes.Virchows Archiv : an international journal of pathology · 2026Review
- DICER1 and DGCR8 in thyroid tumorigenesis: miRNA biogenesis and histopathologic diversity.European thyroid journal · 2025Review
- Somatic genetic alterations in the development and progression in thyroid tumors of follicular cells.European thyroid journal · 2025Review
- Clinical, molecular and radiological characteristics of thyroid nodules with somatic DICER1 mutations in adults.Endocrine connections · 2025Article
- DICER1 Mutation-Associated Follicular Thyroid Tumor With Bizarre and Pleomorphic Nuclei.Cureus · 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
- High-Grade Follicular Cell-Derived Non-Anaplastic Thyroid Carcinoma: Correlating Extent of Invasion and Mutation Profile with Oncologic Outcome.Thyroid : official journal of the American Thyroid Association · 2025Article
- Update on Pediatric Surveillance Recommendations for PTEN Hamartoma Tumor Syndrome, DICER1-Related Tumor Predisposition, and Tuberous Sclerosis Complex.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025Review
- Clinicopathologic and Molecular Analysis of 15 Pediatric and Young Adult Patients with High-Grade Non-anaplastic Thyroid Carcinoma.Endocrine pathology · 2024Article
- Understanding the Dosage-Dependent Role ofInternational journal of molecular sciences · 2024Article
- 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
- Prevalence, Molecular Landscape, and Clinical Impact of DICER1 and DGCR8 Mutated Follicular-Patterned Thyroid Nodules.The Journal of clinical endocrinology and metabolism · 2024Article
- Genomic alterations in thyroid cancer: biological and clinical insights.Nature reviews. Endocrinology · 2024Review
- Evolving approaches in paediatric thyroid cytopathology: A review.Cytopathology : official journal of the British Society for Clinical Cytology · 2024Review
- Characterization of the genomic alterations in poorly differentiated thyroid cancer.Scientific reports · 2023Article
- DICER1 Mutations Do Not Always Indicate Dismal Prognosis in Pediatric Poorly Differentiated Thyroid Carcinomas.Endocrine pathology · 2023Article
- Article
- Genomic and transcriptomic analyses of thyroid cancers identify DICER1 somatic mutations in adult follicular-patterned RAS-like tumors.Frontiers in endocrinology · 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
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
DICER1 gene encodes an RNaseIII endoribonuclease essential for the cleavage of pre-microRNA to mature microRNA. Germline DICER1 mutation results in DICER syndrome, a cancer predisposition syndrome which manifests in the thyroid gland as early-onset multinodular goiter and increased risk for differentiated thyroid carcinoma. Recently, somatic DICER1 mutations were described in various thyroid neoplasms, including follicular adenoma, papillary thyroid carcinoma, follicular carcinoma, and poorly differentiated thyroid carcinoma. In this study, we identified and described 14 cases (1.7%) with somatic DICER1 mutations from a cohort of 829 patients with thyroid follicular cell-derived thyroid carcinomas which were sequenced using MSK-IMPACT targeted next-generation sequencing platform. We expanded the histologic spectrum of thyroid carcinomas with somatic DICER1 mutations to include Hurthle cell carcinoma, high-grade differentiated thyroid carcinoma, and anaplastic thyroid carcinoma. All patients were adults with a median age of diagnosis of 59 years (range: 22-82). Although rare, a subset of thyroid cancers, including the aggressive subtypes, display somatic DICER1 mutations, some of which have oncogenic potential.
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