ReviewVirchows Archiv : an international journal of pathology2016
The co-occurrence of an ovarian Sertoli-Leydig cell tumor with a thyroid carcinoma is highly suggestive of a DICER1 syndrome.
Review in Virchows Archiv : an international journal of pathology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 37 citations in OpenAlex.
- Mutations of the DICER1 gene among children and adolescents with thyroid cancer: a systematic review.Pediatric research · 2026Pooled it
- Expanding the Molecular Data ofHuman mutation · 2026Article
- Relevance of Molecular Pathology for the Diagnosis of Sex Cord-Stromal Tumors of the Ovary: A Narrative Review.Cancers · 2023Review
- Cancer Predisposition Syndromes and Thyroid Cancer: Keys for a Short Two-Way Street.Biomedicines · 2023Review
- KRAS Hijacks the miRNA Regulatory Pathway in Cancer.Cancer research · 2023Article
- Genomic and transcriptomic analyses of thyroid cancers identify DICER1 somatic mutations in adult follicular-patterned RAS-like tumors.Frontiers in endocrinology · 2023Article
- Molecular Landscape of Pediatric Thyroid Cancer: A Review.Diagnostics (Basel, Switzerland) · 2022Review
- Inherited Follicular Epithelial-Derived Thyroid Carcinomas: From Molecular Biology to Histological Correlates.Endocrine pathology · 2021Review
- Ovarian Sertoli-Leydig Cell Tumor, Multinodular Goiter, Cystic Nephromas andPharmacogenomics and personalized medicine · 2021Article
- Lung cyst and multinodular thyroid goiter: Keys to DICER1 syndrome diagnosis in a 16-year-old female.Clinical case reports · 2020Article
- Regulation of microRNA biogenesis and its crosstalk with other cellular pathways.Nature reviews. Molecular cell biology · 2019Review
- DICER1 Syndrome: DICER1 Mutations in Rare Cancers.Cancers · 2018Review
- Three synchronous malignancies in a patient with DICER1 syndrome.European journal of cancer (Oxford, England : 1990) · 2018Article
- DistinctJCO precision oncology · 2018Article
- New roles for Dicer in the nucleolus and its relevance to cancer.Cell cycle (Georgetown, Tex.) · 2017Review
- HABP2 p.G534E variant in patients with family history of thyroid and breast cancer.Oncotarget · 2017Article
- Quantification of Thyroid Cancer and Multinodular Goiter Risk in the DICER1 Syndrome: A Family-Based Cohort Study.The Journal of clinical endocrinology and metabolism · 2017Article
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Authors and funding
6 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The DICER1 gene encodes an endoribonuclease involved in the production of mature microRNAs which regulates gene expression through several mechanisms. Carriers of germline DICER1 mutations are predisposed to a rare cancer syndrome, the DICER1 syndrome. Pleuropulmonary blastoma is the most frequent lesion seen in this syndrome. Thyroid abnormalities are also a common finding, essentially concerning multinodular goiter. However, differentiated thyroid carcinoma is infrequently seen in such pedigrees. In addition to germline DICER1 mutations, specific somatic mutations have been identified in the DICER1 RNase IIIb catalytic domain in several tumor types, including ovarian Sertoli-Leydig cell tumors. We report two cases of differentiated thyroid carcinoma associated with ovarian Sertoli-Leydig cell tumor and with a heterozygous DICER1 gene mutation, occurring in two unrelated young girls without pleuropulmonary blastoma. Both thyroid carcinomas showed an E1813 mutation in exon 25 while the ovarian tumors harboured a somatic mutation in E1705 in exon 24 and a D1709 mutation in exon 25. Our observations confirm that the occurrence of an ovarian Sertoli-Leydig cell tumor with a thyroid carcinoma is highly suggestive of a DICER1 syndrome. We contend that the possibility of a relationship between sporadic thyroid carcinoma in young patients and somatic DICER1 gene mutation needs further investigation.
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