Evidence map›Paper›PMID 33321690›Full record

ArticleDiagnostics (Basel, Switzerland)2020

Dysgerminoma with a Somatic Exon 17

Ada Gawrychowska, Ewa Iżycka-Świeszewska, Beata S Lipska-Ziętkiewicz, Dominika Kuleszo, Joanna Bautembach-Minkowska, Marcin Łosin, Joanna Stefanowicz

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Diagnostics (Basel, Switzerland), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.9field-weighted citation impact, top 22% 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

2 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. 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

7 authors at 2 institutions in 1 country.

Ada GawrychowskaDepartment of Paediatrics, Haematology and Oncology, Clinical University Centre, 7 Debinki Street, 80-952 Gdansk, Poland.ORCID 0000-0001-5148-1965
Ewa Iżycka-ŚwieszewskaDepartment of Pathology and Neuropathology, Faculty of Health Sciences, Medical University of Gdansk, 3a Maria Sklodowska-Curie Street, 80-210 Gdansk, Poland.ORCID 0000-0001-7550-1326
Beata S Lipska-ZiętkiewiczCentre for Rare Diseases, Medical University of Gdansk, 7 Debinki Street, 80-952 Gdansk, Poland.ORCID 0000-0002-4169-9685
Dominika KuleszoDepartment of Biology and Medical Genetics, Faculty of Medicine, Medical University of Gdansk, 1 Debinki Street, 80-211 Gdansk, Poland.
Joanna Bautembach-MinkowskaDepartment of Paediatrics, Diabetology and Endocrinology, Clinical University Centre, 7 Debinki Street, 80-952 Gdansk, Poland.
Marcin ŁosinDepartment of Surgery and Urology for Children and Adolescents, Faculty of Medicine, Medical University of Gdansk, 1-6 Nowe Ogrody Street, 80-803 Gdansk, Poland.
Joanna StefanowiczDepartment of Paediatrics, Haematology and Oncology, Clinical University Centre, 7 Debinki Street, 80-952 Gdansk, Poland.ORCID 0000-0001-8014-4263
Gdańsk Medical University · PLUniversity Clinical Centre · PL

Funding

Polish National Science Centre Grant NCN 2014/15/B/NZ4/04855 (leader- E.Iżycka-Świeszewska).
6 · The paper itself

Abstract

This article reports a case of a 7-year-old girl with Turner syndrome, treated with growth hormone (GH), who developed ovarian dysgerminoma. The patient karyotype was mosaic for chromosome Xq deletion: 46,X,del(X)(q22)/45,X. No Y chromosome sequences were present. Molecular studies revealed the presence of a driving mutation in exon 17 of the KIT gene in the neoplastic tissue, as well as Sonic-hedgehog (SHH) pathway activation at the protein level. The patient responded well to chemotherapy and remained in complete remission. This is the first case of dysgerminoma in a Turner syndrome patient with such oncogenic pathway.

Indexed as

dysgerminomagrowth hormone treatmentHH signalingsomatic exon 17 KIT mutationTurner syndrome

Identifiers

PMID33321690
PMCPMC7763800
OpenAlexW3112731080

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.