ArticlePediatric radiology2017
Pediatric imaging in DICER1 syndrome.
Article in Pediatric radiology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 2 of them syntheses that pooled it.
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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.
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Who cites it
16 citing papers in PubMed, 2 syntheses or guidelines pooled it, 34 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
- Whole-body magnetic resonance imaging in children - how and why? A systematic review.Pediatric radiology · 2021Pooled it
- Imaging findings of primary lung tumors in childrenDiagnostic and interventional radiology (Ankara, Turkey) · 2024Article
- Positron emission tomography in the diagnosis and management of primary pediatric lung tumors.Pediatric radiology · 2024Review
- Ultrasound features of multinodular goiter in DICER1 syndrome.Scientific reports · 2022Article
- The Role of Imaging in Health Screening: Screening for Specific Conditions.Academic radiology · 2021Review
- Review
- Association between microRNA machinery gene polymorphisms and recurrent implantation failure.Experimental and therapeutic medicine · 2020Article
- Nasal chondromesenchymal hamartomas in a cohort with pathogenic germline variation inRhinology online · 2020Article
- Imaging of DICER1 syndrome.Pediatric radiology · 2019Review
- Cystic renal mass in an infant with significant family history: Answers.Pediatric nephrology (Berlin, Germany) · 2018Article
- Imaging of cancer predisposition syndromes.Pediatric radiology · 2018Review
- Magnetic resonance imaging of pediatric adnexal masses and mimics.Pediatric radiology · 2018Review
- Current utilization and procedural practices in pediatric whole-body MRI.Pediatric radiology · 2018Article
- Whole-body magnetic resonance imaging: techniques and non-oncologic indications.Pediatric radiology · 2018Review
- Sertoli-Leydig Cell Tumour andCase reports in obstetrics and gynecology · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDICER1 syndrome, arising from a mutation in the DICER1 gene mapped to chromosome 14q32, is associated with an increased risk of a range of benign and malignant neoplasms.
objectiveTo determine the spectrum of abnormalities and imaging characteristics in patients with DICER1 syndrome at a tertiary pediatric hospital. MATERIALS AND
methodsThis retrospective analysis evaluated imaging in patients ≤18 years with DICER1 germline variants between January 2004 and July 2016. An imaging database search including keywords pleuropulmonary blastoma, cystic nephroma, pineoblastoma, embryonal rhabdomyosarcoma, ovarian sex cord-stromal tumor, ovarian Sertoli-Leydig cell tumor and DICER1 syndrome, was cross-referenced against the institutional Cancer Genetics Program database, excluding patients with negative/unknown DICER1 gene testing.
resultsSixteen patients were included (12 females; mean age at presentation: 4.2 years, range: 14 days to 17 years), with surveillance imaging encompassing the following modalities: chest X-ray and CT; abdominal, pelvic and neck US; and brain and whole-body MRI. Malignant lesions (68.8% of patients) included pleuropulmonary blastoma (5), pineoblastoma (3), ovarian Sertoli-Leydig cell tumor (1), embryonal rhabdomyosarcoma (1) and renal sarcoma (1); benign lesions (37.5% of patients) included thyroid cysts (2), thyroid nodules (2), cystic nephroma (2), renal cysts (1) and pineal cyst (1). A common lesional appearance observed across modalities and organs was defined as the "cracked windshield" sign.
conclusionThe spectrum of DICER1-related tumors and the young age at presentation suggest early surveillance of at-risk patients is critical, while minimizing exposure to ionizing radiation.
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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.