Evidence map›Paper›PMID 31620849›Full record

ReviewPediatric radiology2019

Imaging of DICER1 syndrome.

R Paul Guillerman, William D Foulkes, John R Priest

Abstract readReview
PubMed Publisher
In one paragraph

Review in Pediatric radiology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
21citing papers in PubMed, 1 pooled it
5.1field-weighted citation impact, top 4% of its field
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

21 citing papers in PubMed, 1 synthesis or guideline pooled it, 46 citations in OpenAlex.

  1. Guideline
  2. Article
  3. Article
  4. Review
  5. Cancers · 2025
    Review
  6. Review
  7. Article
  8. Review
  9. Review
  10. Hereditary cancer syndromes.World journal of clinical oncology · 2023
    Review
  11. Review
  12. Article
  13. Review
  14. Article
  15. Review
  16. Review
  17. Article
  18. Article
  19. Case - Bilateral and recurrent pediatric cystic nephroma associated with DICER1 mutation.Canadian Urological Association journal = Journal de l'Association des urologues du Canada · 2021
    Article
  20. Spectrum ofJournal of clinical medicine · 2021
    Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors at 3 institutions in 2 countries.

R Paul GuillermanDepartment of Pediatric Radiology, Texas Children's Hospital, 6701 Fannin St., Suite 470, Houston, TX, 77030, USA. rpguille@texaschildrens.org.ORCID 0000-0001-8149-613X
William D FoulkesDepartment of Human Genetics, McGill University, Lady Davis Institute, Segal Cancer Centre,, Jewish General Hospital,, Montreal, QC, Canada.ORCID 0000-0001-7427-4651
John R Priest, Minneapolis, USA.
Jewish General Hospital · CAMinneapolis Institute of Arts · USTexas Children's Hospital · US

Funding

CIHR FDN-148390
6 · The paper itself

Abstract

DICER1 syndrome is a highly pleiotropic tumor predisposition syndrome that has been increasingly recognized in the last 10 years. Diseases in the syndrome result from mutations in both copies of the gene DICER1, a highly conserved gene that is critically implicated in micro-ribonucleic acid (miRNA) biogenesis and hence modulation of messenger RNAs. In general, susceptible individuals carry an inherited germline mutation that disables one copy of DICER1; within tumors, a very characteristic second mutation alters function of the other gene copy. About 20 hamartomatous, hyperplastic or neoplastic conditions comprise DICER1 syndrome. Most are not life-threatening, but some are aggressive malignancies. There are many unaffected carriers because penetrance is generally low; however, clinically occult thyroid nodules and lung cysts are frequent. Rare diseases of early childhood were the first recognized conditions in DICER1 syndrome, while other conditions affect adolescents and adults. The hallmarks of DICER1 syndrome are certain rare tumors including pleuropulmonary blastoma; cystic nephroma; ovarian Sertoli-Leydig cell tumor; sarcomas of the cervix, kidneys and cerebrum; pituitary blastoma; ciliary body medulloepithelioma; and nasal chondromesenchymal hamartoma. Radiologists are often the first practitioners to observe these diverse manifestations and play a primary role in recognizing DICER1 syndrome.

Indexed as

Genetic Predisposition to DiseaseChildDEAD-box RNA HelicasesDiagnosis, DifferentialGerm-Line MutationHumansNeoplastic Syndromes, HereditaryRare DiseasesRibonuclease IIIDEAD-box RNA HelicasesDICER1 protein, humanRibonuclease IIIChildrenComputed tomographyDICER1 syndromeMagnetic resonance imagingPleuropulmonary blastomaTumor predispositionUltrasound

Identifiers

PMID31620849
OpenAlexW2981058310

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.