Evidence map›Paper›PMID 31937902›Full record

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

Poorly differentiated thyroid carcinoma of childhood and adolescence: a distinct entity characterized by DICER1 mutations.

Rebecca D Chernock, Barbara Rivera, Nicla Borrelli, D Ashley Hill, Somayyeh Fahiminiya, Tasha Shah, Anne-Sophie Chong, Barina Aqil, Mitra Mehrad, Thomas J Giordano and 5 more

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
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 82 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
82citing papers in PubMed, 4 pooled it
20.8field-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

82 citing papers in PubMed, 4 syntheses or guidelines pooled it, 153 citations in OpenAlex.

  1. Guideline
  2. Pooled it
  3. Poorly differentiated thyroid carcinomas: conceptual controversy and clinical impact.Virchows Archiv : an international journal of pathology · 2024
    Pooled it
  4. Guideline
  5. Review
  6. Article
  7. Article
  8. Article
  9. Review
  10. Article
  11. Review
  12. Review
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  14. Article
  15. Approach to the Pediatric Patient With Thyroid Nodules.The Journal of clinical endocrinology and metabolism · 2025
    Review
  16. Review
  17. Article
  18. Article
  19. Review
  20. Review

22 more citing papers are in PubMed but not listed here.

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

15 authors at 11 institutions in 2 countries.

Rebecca D Chernock *Department of Pathology and Immunology, Washington University School of Medicine, St Louis, MO, USA. rchernock@wustl.edu.
Barbara Rivera *Gerald Bronfman Department of Oncology, McGill University, Montreal, QC, Canada.ORCID http://orcid.org/0000-0001-9434-6288
Nicla BorrelliDepartment of Pathology, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
D Ashley HillDepartment of Pathology, Children's National Medical Center, Washington, DC, USA.
Somayyeh FahiminiyaCancer Research Program, Research Institute of the McGill University Health Centre, McGill University, Montreal, QC, Canada.
Tasha ShahLady Davis Institute for Medical Research, Jewish General Hospital, McGill University, Montreal, QC, Canada.
Anne-Sophie ChongDepartment of Human Genetics, McGill University, Montreal, QC, Canada.ORCID http://orcid.org/0000-0002-1825-9788
Barina AqilDepartment of Pathology, Feinberg School of Medicine, Chicago, IL, USA.
Mitra MehradDepartment of Pathology, Microbiology and Immunology, Vanderbilt University Medical Center, Nashville, TN, USA.
Thomas J GiordanoDepartment of Pathology, University of Michigan, Ann Arbor, MI, USA.
Rachel SheridanDepartment of Pathology, Dayton Children's Hospital, Dayton, OH, USA.
Meilan M RutterDepartment of Pediatrics, University of Cincinnati, Cincinnati, OH, USA.
Louis P DehnerDepartment of Pathology and Immunology, Washington University School of Medicine, St Louis, MO, USA.
William D FoulkesGerald Bronfman Department of Oncology, McGill University, Montreal, QC, Canada.ORCID http://orcid.org/0000-0001-7427-4651
Yuri E NikiforovDepartment of Pathology, University of Pittsburgh Medical Center, Pittsburgh, PA, USA. nikiforvye@upmc.edu.
Jewish General Hospital · CAMcGill University Health Centre · CAUniversity of Pittsburgh Medical Center · USWashington University in St. Louis · USChildren's National · USCincinnati Children's Hospital Medical Center · USDayton Children's Hospital · USMcGill University · CANorthwestern University · USUniversity of Michigan · USVanderbilt University Medical Center · US

Funding

ALK Rearrangements in Aggressive Thyroid CancerR01CA181150 · NCI · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI NIKIFOROV, YURI E · 2014 to 2024
$3.3M
Foundation for the National Institutes of Health (Foundation for the National Institutes of Health, Inc.) CA181150NCI NIH HHS R01 CA181150
6 · The paper itself

Abstract

Poorly differentiated thyroid carcinomas (PDTC) in young individuals are rare and their clinical and histopathologic features, genetic mechanisms, and outcomes remain largely unknown. Here, we report a detailed characterization of a series of six PDTC in patients ≤21 years old defined by Turin diagnostic criteria studied for mutations and gene fusions characteristic of thyroid cancer using targeted next-generation sequencing (NGS) and whole-exome sequencing (WES). All tumors had solid, insular, or trabecular growth pattern and high mitotic rate, and five out of six tumors showed tumor necrosis. Targeted NGS assay identified somatic mutations in the DICER1 gene in five of six (83%) tumors, all of which were "hotspot" mutations encoding the metal-ion binding sites of the RNase IIIb domain of DICER1. WES was performed in five cases which confirmed all hotspot mutations and detected two tumors with additional inactivating DICER1 alterations. Of these two, one was a germline pathogenic DICER1 variant and the other had loss of heterozygosity for DICER1. No other mutations or gene fusions characteristic of adult well-differentiated thyroid cancer and PDTC (BRAF, RAS, TERT, RET/PTC, and other) were detected. On follow-up, available for five patients, three patients died of disease 8-24 months after diagnosis, whereas two were alive with no disease. The results of our study demonstrate that childhood- and adolescent-onset PDTC are genetically distinct from adult-onset PDTC in that they are strongly associated with DICER1 mutations and may herald DICER1 syndrome in a minority. As such, all young persons with PDTC may benefit from genetic counseling. Furthermore, their clinically aggressive behavior contrasts sharply with the indolent nature of the great majority of thyroid tumors with DICER1 mutations reported to date.

Indexed as

AdenocarcinomaAdolescentDEAD-box RNA HelicasesFemaleHumansMaleMutationRibonuclease IIIThyroid NeoplasmsYoung AdultDEAD-box RNA HelicasesDICER1 protein, humanRibonuclease III

Identifiers

PMID31937902
PMCPMC7329587
OpenAlexW2999209334

What OpenQuestion holds

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Registered trials

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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.