ArticleBritish journal of cancer2013
DICER1 hotspot mutations in non-epithelial gonadal tumours.
Article in British journal of cancer, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 56 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
56 citing papers in PubMed, 125 citations in OpenAlex.
- Thyroblastoma as a manifestation of DICER1 syndrome with confirmed germline mutation and comprehensive literature review.Virchows Archiv : an international journal of pathology · 2026Review
- DICER1 Syndrome With Embryonal Rhabdomyosarcoma of the Uterine Cervix and Retroperitoneal Metastasis: A Case Report and Literature Review.Case reports in obstetrics and gynecology · 2026Article
- Targeting Ovarian Neoplasms: Subtypes and Therapeutic Options.Medicina (Kaunas, Lithuania) · 2025Review
- Rapid recurrence of ovarian mixed sex-cord-stromal tumor associated with DICER1 gene mutation: a case analysis and literature review.Annals of medicine and surgery (2012) · 2025Article
- Replenishing co-downregulated miR-100-5p and miR-125b-5p in malignant germ cell tumors causes growth inhibition through cell cycle disruption.Molecular oncology · 2025Article
- Shedding light on theFrontiers in molecular biosciences · 2024Article
- Relevance of Molecular Pathology for the Diagnosis of Sex Cord-Stromal Tumors of the Ovary: A Narrative Review.Cancers · 2023Review
- Circulating microRNAs as Potential Biomarkers in Pancreatic Cancer-Advances and Challenges.International journal of molecular sciences · 2023Review
- KRAS Hijacks the miRNA Regulatory Pathway in Cancer.Cancer research · 2023Article
- Genomic characterization of DICER1-associated neoplasms uncovers molecular classes.Nature communications · 2023Article
- Article
- DICER1 mutations in primary central nervous system tumors: new insights into histologies, mutations, and prognosis.Journal of neuro-oncology · 2022Article
- Testicular Sertoli cell tumour and potentially testicular Leydig cell tumour are features ofJournal of medical genetics · 2022Article
- DICER1 tumor predisposition syndrome: an evolving story initiated with the pleuropulmonary blastoma.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2022Review
- Spectrum ofJournal of clinical medicine · 2021Review
- Prevalence of Pathogenic GermlineFrontiers in endocrinology · 2021Article
- Ovarian Sertoli-Leydig Cell Tumor, Multinodular Goiter, Cystic Nephromas andPharmacogenomics and personalized medicine · 2021Article
- Malignant teratoid tumor of the thyroid gland: an aggressive primitive multiphenotypic malignancy showing organotypical elements and frequent DICER1 alterations-is the term "thyroblastoma" more appropriate?Virchows Archiv : an international journal of pathology · 2020Article
- Lack of pathogenic germline DICER1 variants in males with testicular germ-cell tumors.Cancer genetics · 2020Article
- The clinical impact of intra- and extracellular miRNAs in ovarian cancer.Cancer science · 2020Review
Corrections and comments
- Erratum issuedChoong, C S [added]
Authors and funding
15 authors at 10 institutions in 5 countries.
Funding
Abstract
backgroundNon-epithelial gonadal tumours largely comprise sex cord-stromal tumours (SCSTs) and germ cell tumours (GCTs). Specific somatic mutations in DICER1, a microRNA maturation pathway gene, have been identified in these tumours. We conducted a study that aimed to confirm, refine and extend the previous observations.
methodsWe used Sanger sequencing to sequence the RNase IIIa and IIIb domains of DICER1 in 154 gonadal tumours from 135 females and 19 males, as well as 43 extra-gonadal GCTs from 26 females and 17 males.
resultsWe identified heterozygous non-synonymous mutations in the RNase IIIb domain of DICER1 in 14/197 non-epithelial tumours (7.1%). Mutations were found in 9/28 SCSTs (32%), 5/118 gonadal GCTs (4.2%), 0/43 extra-gonadal GCTs and 0/8 miscellaneous tumours. The 14 mutations affected only five residues: E1705, D1709, E1788, D1810 and E1813. In all five patients where matched and constitutional DNA was available, the mutations were only somatic. There were no mutations found in the RNase IIIa domain.
conclusionMore than half (8/15) of Sertoli-Leydig cell tumours (SLCTs) harbour DICER1 mutations in the RNase IIIb domain, while mutations are rarely found in GCTs. Genetic alterations in SLCTs may aid in classification and provide new approaches to therapy.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.