Evidence map›Paper›PMID 31900434›Full record

ArticleModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc2020

Significantly greater prevalence of DICER1 alterations in uterine embryonal rhabdomyosarcoma compared to adenosarcoma.

Leanne de Kock, Ju-Yoon Yoon, Maria Apellaniz-Ruiz, Dylan Pelletier, W Glenn McCluggage, Colin J R Stewart, Brendan C Dickson, Marjan Rouzbahman, Blaise A Clarke, William D Foulkes

Open access · bronzeAbstract read
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In one paragraph

Article in Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
26citing papers in PubMed, 1 pooled it
10.2field-weighted citation impact, top 1% 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

26 citing papers in PubMed, 1 synthesis or guideline pooled it, 69 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Gynecologic oncology reports · 2025
    Article
  5. Article
  6. Review
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Mullerian adenosarcoma: clinicopathologic and molecular characterization highlighting recurrent BAP1 loss and distinctive features of high-grade tumors.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2022
    Article
  14. Endometrial polyps are non-neoplastic but harbor epithelial mutations in endometrial cancer drivers at low allelic frequencies.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2022
    Article
  15. Rare Hereditary Gynecological Cancer Syndromes.International journal of molecular sciences · 2022
    Review
  16. 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 · 2022
    Review
  17. DICER1-sarcoma: an emerging entity.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2021
    Article
  18. Article
  19. Article
  20. Clinicopathologic and molecular analysis of embryonal rhabdomyosarcoma of the genitourinary tract: evidence for a distinct DICER1-associated subgroup.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2021
    Article
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

10 authors at 7 institutions in 4 countries.

Leanne de Kock *Department of Human Genetics, McGill University, Montréal, QC, Canada.
Ju-Yoon Yoon *Department of Laboratory Medicine and Pathobiology, University of Toronto, University Health Network, Toronto, ON, Canada.
Maria Apellaniz-RuizDepartment of Human Genetics, McGill University, Montréal, QC, Canada.
Dylan PelletierDepartment of Human Genetics, McGill University, Montréal, QC, Canada.ORCID http://orcid.org/0000-0002-5343-9389
W Glenn McCluggageDepartment of Pathology, Belfast Health and Social Care Trust, Belfast, UK.
Colin J R StewartSchool for Women's and Infants' Health, University of Western Australia, Perth, WA, Australia.
Brendan C DicksonDepartment of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, ON, Canada.ORCID http://orcid.org/0000-0003-2269-6216
Marjan RouzbahmanDepartment of Laboratory Medicine and Pathobiology, University of Toronto, University Health Network, Toronto, ON, Canada.
Blaise A Clarke *Department of Laboratory Medicine and Pathobiology, University of Toronto, University Health Network, Toronto, ON, Canada.
William D Foulkes *Department of Human Genetics, McGill University, Montréal, QC, Canada. william.foulkes@mcgill.ca.ORCID http://orcid.org/0000-0001-7427-4651
University Health Network · CAJewish General Hospital · CABelfast Health and Social Care Trust · GBMcGill University · CAMcGill University Health Centre · CAMount Sinai Hospital · CAThe University of Western Australia · AU

Funding

CIHR FDN-148390
6 · The paper itself

Abstract

Embryonal rhabdomyosarcomas (ERMS) account for 2-3% of cancers in pediatric and adolescent populations. They are rarer in adults. We and others have reported that ERMS arising in the uterine cervix may harbor mutations in the gene encoding the microRNA biogenesis enzyme, DICER1, but a large series of cases has not been published. In the uterus, distinguishing ERMS from adenosarcoma can be very challenging, even for expert pathologists, and DICER1 alterations have been identified in a variable subset of uterine adenosarcomas. We hypothesized that DICER1 genetic testing may be useful in distinguishing between ERMS and adenosarcoma. We conducted a central pathology review-based study of 64 tumors initially thought to be uterine ERMS or adenosarcoma; 19 neoplasms had a consensus diagnosis of ERMS, 27 of adenosarcoma and for 18, no consensus diagnosis was reached. The median age at diagnosis was 30 years (range 2.5-69) for ERMS, 57.5 years (range 27-82) for adenosarcoma, and 65.5 years (range 32-86) for no consensus cases. In our series, the DICER1 mutation prevalence differed between the three groups: DICER1 alterations were present in 18/19 (95%) ERMS, 7/27 (26%) adenosarcomas (p < 0.001), and 4/18 (22%) no consensus cases. A germline alteration was present in 6/12 ERMS patients tested versus 0/6 adenosarcoma patients. Thus, although DICER1 mutations are near ubiquitous in uterine ERMS and are significantly less common in uterine adenosarcoma, DICER1 testing is only of value in distinguishing between the two neoplasms when a DICER1 mutation is absent, as this is helpful in excluding ERMS. On review of the clinical and radiological features of the single DICER1 wild-type cervical ERMS, this was thought most likely to be of vaginal origin. Given the significant prevalence of DICER1 germline pathogenic variants in uterine ERMS, all patients with this diagnosis should be referred to a genetics service.

Indexed as

MutationAdenosarcomaAdolescentAdultAgedAged, 80 and overChildChild, PreschoolDEAD-box RNA HelicasesFemaleGenetic Predisposition to DiseaseHumansMiddle AgedRhabdomyosarcomaRibonuclease IIIUterine NeoplasmsDEAD-box RNA HelicasesDICER1 protein, humanRibonuclease III

Identifiers

PMID31900434
OpenAlexW2998535613

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.