Mutations of the DICER1 gene among children and adolescents with thyroid cancer: a systematic review

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BACKGOUND: The DICER1 gene located on chromosome 14q, essential for the maturation of miRNAs, is commonly associated with multinodular goiter and thyroid carcinomas. We aimed to systematically search the literature and identify mutations in the DICER1 gene associated with thyroid cancer in children and adolescents. METHODS: The study was performed according to the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) statement through four databases (Pubmed, Web of Science/Scopus/Google Scholar). The quality of the studies was assessed using the ROBINS-1 tool. RESULTS: A total of 1672 articles were retrieved through databases. After applying the inclusion/exclusion criteria, 32 original studies were systematically reviewed. Genomic mutations in the DICER1 gene lead to DICER1 syndrome, which is more commonly associated with multinodular goiter than with thyroid carcinomas. The most common type of thyroid cancer in the setting of DICER1 gene mutations is papillary thyroid carcinoma, followed by follicular thyroid carcinoma and poorly differentiated thyroid cancer. Additionally, other rare histological types may occur. These mutations have been associated with capsular invasion and do not often metastasize to lymph nodes or distant organs. CONCLUSION: Mutations in the DICER1 gene appear to be more commonly associated with thyroid cancer in children than in adults, particularly with differentiated thyroid carcinoma. IMPACT: The impact of this study is to provide a systematic analysis of DICER1 mutations in pediatric and adolescent thyroid cancer, summarizing its prevalence, clinical significance and molecular mechanisms in this specific population group. By integrating current evidence, this study highlights the role of DICER1 gene in tumorigenesis and supports future research and clinical decision-making in thyroid cancer among children and adolescents.

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