Evidence map›Paper›PMID 31296931›Full record

ArticleModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc2019

Presacral malignant teratoid neoplasm in association with pathogenic DICER1 variation.

Yoshiko Nakano, Daiichiro Hasegawa, Douglas R Stewart, Kris Ann P Schultz, Anne K Harris, Junko Hirato, Suguru Uemura, Akihiro Tamura, Atsuro Saito, Atsufumi Kawamura and 8 more

Registry-linked trialOpen access · greenAbstract readCase Reports
In one paragraph

Article in Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 2019. 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 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
4.9field-weighted citation impact, top 5% 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.

NCT03382158 recruitingnot on this map

International Pleuropulmonary Blastoma/DICER1 Registry (for PPB, DICER1 and Associated Conditions)

Typeobservational_patient_registrySponsorChildren's Hospitals and Clinics of MinnesotaRan2016 to 2035Enrolled3,400ConditionsPleuropulmonary Blastoma, Sertoli-Leydig Cell Tumor, DICER1 Syndrome, Cystic Nephroma
3 · Its place in the literature

Who cites it

12 citing papers in PubMed, 29 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Article
  5. 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
  6. 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
  7. Article
  8. DICER1-associated sarcomas: towards a unified nomenclature.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2021
    Article
  9. Article
  10. Cold Spring Harbor molecular case studies · 2020
    Article
  11. Article
  12. The Histological Spectrum of DICER1-Associated Neoplasms.Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
    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

18 authors at 7 institutions in 3 countries.

Yoshiko NakanoDivision of Brain Tumor Translational Research, National Cancer Center Research Institute, Tokyo, Japan. yonakano@ncc.go.jp.ORCID http://orcid.org/0000-0001-5394-8194
Daiichiro HasegawaDepartment of Hematology and Oncology, Hyogo Prefectural Kobe Children's Hospital, Hyogo, Japan.
Douglas R StewartClinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.ORCID http://orcid.org/0000-0001-8193-1488
Kris Ann P SchultzInternational Pleuropulmonary Blastoma (PPB)/DICER1 Registry, Children's Minnesota, Minneapolis, MN, USA.
Anne K HarrisInternational Pleuropulmonary Blastoma (PPB)/DICER1 Registry, Children's Minnesota, Minneapolis, MN, USA.
Junko HiratoDepartment of Pathology, Gunma University Hospital, Gunma, Japan.
Suguru UemuraDepartment of Hematology and Oncology, Hyogo Prefectural Kobe Children's Hospital, Hyogo, Japan.
Akihiro TamuraDepartment of Hematology and Oncology, Hyogo Prefectural Kobe Children's Hospital, Hyogo, Japan.
Atsuro SaitoDepartment of Hematology and Oncology, Hyogo Prefectural Kobe Children's Hospital, Hyogo, Japan.
Atsufumi KawamuraDepartment of Neurosurgery, Hyogo Prefectural Kobe Children's Hospital, Hyogo, Japan.
Makiko YoshidaDepartment of Diagnostic Pathology, Hyogo Prefectural Kobe Children's Hospital, Hyogo, Japan.
Kai YamasakiDivision of Brain Tumor Translational Research, National Cancer Center Research Institute, Tokyo, Japan.ORCID http://orcid.org/0000-0002-5701-8813
Satoshi YamashitaDivision of Epigenomics, National Cancer Center Research Institute, Tokyo, Japan.ORCID http://orcid.org/0000-0001-9315-3492
Toshikazu UshijimaDivision of Epigenomics, National Cancer Center Research Institute, Tokyo, Japan.ORCID http://orcid.org/0000-0003-3405-7817
Yoshiyuki KosakaDepartment of Hematology and Oncology, Hyogo Prefectural Kobe Children's Hospital, Hyogo, Japan.
Koichi IchimuraDivision of Brain Tumor Translational Research, National Cancer Center Research Institute, Tokyo, Japan.ORCID http://orcid.org/0000-0002-3851-2349
Louis P DehnerLauren V. Ackerman Laboratory of Surgical Pathology, Washington University Medical Center, St. Louis, MO, USA.
D Ashley HillDivision of Pathology and Center for Cancer and Immunology Research, Children's National Health System, Washington, DC, USA.
Kobe Children's Hospital · JPChildren’s Minnesota - St. Paul Hospital · USChildren's National · USGunma University Hospital · JPNational Cancer Institute · USNational Cancer Research Institute · GBWashington University Medical Center · US

Funding

DICER1 and the Pleuropulmonary Blastoma Family Cancer SyndromeR01CA143167 · NCI · CHILDREN'S RESEARCH INSTITUTE · PI HILL, DANA ASHLEY · 2010 to 2020
$3.7M
NCI NIH HHS R01 CA143167
6 · The paper itself

Abstract

We report two malignant sacrococcygeal tumors in infants that were associated with pathogenic DICER1 variation. These tumors were composed of primitive neuroepithelium, embryonal rhabdomyosarcoma, and cartilage and initially diagnosed as immature teratomas. One child developed intracranial metastasis and died. The second child underwent surgery and chemotherapy and achieved complete remission. This child subsequently developed five additional DICER1-associated neoplasms by age nine. Genetic analysis revealed that both tumors harbored biallelic pathogenic DICER1 variation. We believe these cases represent another novel subtype of DICER1-associated tumor. This new entity, which we propose to call DICER1-associated presacral malignant teratoid neoplasm, may be difficult initially to distinguish from immature teratoma, but recognizing it as an entity can prompt appropriate classification as an aggressive malignancy and facilitate appropriate genetic counseling, DICER1 germline variant testing, screening, and education.

Indexed as

DEAD-box RNA HelicasesFemaleGenetic Predisposition to DiseaseGerm-Line MutationHumansInfant, NewbornMaleRibonuclease IIISacrococcygeal RegionTeratomaDEAD-box RNA HelicasesDICER1 protein, humanRibonuclease III

Identifiers

PMID31296931
PMCPMC6881536
OpenAlexW2959063916

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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.