ArticlePediatric nephrology (Berlin, Germany)2018
Structural renal abnormalities in the DICER1 syndrome: a family-based cohort study.
Article in Pediatric nephrology (Berlin, Germany), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03382158 (International Pleuropulmonary Blastoma/DICER1 Registry), which is not on this map. Cited by 11 papers, 1 of them a synthesis that pooled it.
What it found
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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.
International Pleuropulmonary Blastoma/DICER1 Registry (for PPB, DICER1 and Associated Conditions)
Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 21 citations in OpenAlex.
- Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group.Familial cancer · 2021Guideline
- Expanding the Molecular Data ofHuman mutation · 2026Article
- Pleuropulmonary blastoma and DICER1-related tumor predisposition: from clinicopathologic observations to clinical trial.Current opinion in pediatrics · 2025Review
- DICER1-Related Tumor Predisposition: Identification of At-risk Individuals and Recommended Surveillance Strategies.Clinical cancer research : an official journal of the American Association for Cancer Research · 2024Article
- A genome-first approach to characterize DICER1 pathogenic variant prevalence, penetrance and cancer, thyroid, and other phenotypes in 2 population-scale cohorts.Genetics in medicine open · 2024Article
- 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
- A Genome-First Approach to Characterize DICER1 Pathogenic Variant Prevalence, Penetrance, and Phenotype.JAMA network open · 2021Article
- Lack of pathogenic germline DICER1 variants in males with testicular germ-cell tumors.Cancer genetics · 2020Article
- Imaging of DICER1 syndrome.Pediatric radiology · 2019Review
- Dental abnormalities in individuals with pathogenic germline variation in DICER1.American journal of medical genetics. Part A · 2019Article
- Germline Genetics and Childhood Cancer: Emerging Cancer Predisposition Syndromes and Psychosocial Impacts.Current oncology reports · 2019Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors at 9 institutions in 1 country.
Funding
Abstract
backgroundThe DICER1 syndrome is a tumor-predisposition disorder caused by germline pathogenic variation in DICER1 and is associated with cystic nephroma and other renal neoplasms. Dicer1 mouse and rare human DICER1 syndrome case reports describe structural kidney and collecting system anomalies. We investigated renal function and the frequency of structural abnormalities of the kidney and collecting system in individuals with germline loss-of-function variants in DICER1.
methodsIn this family-based cohort study, prospectively ascertained germline DICER1-mutation carriers (DICER1-carriers) and unaffected family controls were evaluated at the National Institutes of Health Clinical Center with renal ultrasound and comprehensive laboratory testing. Two radiologists reviewed the imaging studies from all participants for structural abnormalities, cysts, and tumors.
resultsEighty-nine DICER1-carriers and 61 family controls were studied. Renal cysts were detected in 1/33 DICER1-carrier children without history of cystic nephroma. Similar proportions of adult DICER1-carriers (8/48; 17%) and controls (11/50; 22%) had ultrasound-detected renal cysts (P = 0.504). 8/89 (9%) DICER1-carriers harbored ultrasound-detected structural abnormalities of varying severity within the collecting system or kidney, nephrolithiasis, or nephrocalcinosis. None of the family controls (0/61) had similar findings on ultrasound (P = 0.02). No meaningful differences in renal laboratory values between DICER1-carriers and unaffected family controls were observed.
conclusionsOur report is the first to systematically characterize renal function and anatomy in a large prospective cohort of DICER1-carriers and DICER1-negative family controls. DICER1-carriers may be at increased risk of structural anomalies of the kidney or collecting system. The role for DICER1 in renal morphogenesis merits additional investigation.
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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.