Evidence map›Paper›PMID 34118935›Full record

ArticleDiagnostic pathology2021

SWI/SNF-deficient undifferentiated/rhabdoid carcinoma of the gallbladder carrying a POLE mutation in a 30-year-old woman: a case report.

Tiemo S Gerber, Abbas Agaimy, Arndt Hartmann, Michael Habekost, Wilfried Roth, Albrecht Stenzinger, Peter Schirmacher, Beate K Straub

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

Article in Diagnostic pathology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.6field-weighted citation impact, top 36% 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

5 citing papers in PubMed, 11 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Molecular features of primary hepatic undifferentiated carcinoma.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2022
    Article
  5. 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

8 authors at 5 institutions in 1 country.

Tiemo S GerberInstitute of Pathology, University Medical Center Mainz, Langenbeckstraße 1, 55131, Mainz, Germany.
Abbas AgaimyInstitute of Pathology, Erlangen University Hospital, Erlangen, Germany.
Arndt HartmannInstitute of Pathology, Erlangen University Hospital, Erlangen, Germany.
Michael HabekostDepartment of General- and Visceral Surgery, Agaplesion Markus Krankenhaus, Frankfurt am Main, Germany.
Wilfried RothInstitute of Pathology, University Medical Center Mainz, Langenbeckstraße 1, 55131, Mainz, Germany.
Albrecht StenzingerInstitute of Pathology, University Hospital Heidelberg, Heidelberg, Germany.
Peter SchirmacherInstitute of Pathology, University Hospital Heidelberg, Heidelberg, Germany.
Beate K StraubInstitute of Pathology, University Medical Center Mainz, Langenbeckstraße 1, 55131, Mainz, Germany. beate.straub@unimedizin-mainz.de.
Johannes Gutenberg University Mainz · DEUniversitätsklinikum Erlangen · DEAgaplesion Markus Hospital · DEHeidelberg University · DEUniversity Hospital Heidelberg · DE

Funding

Else Kröner-Fresenius-Stiftung Else Kröner Research College: 2018_Kolleg.05
6 · The paper itself

Abstract

backgroundUndifferentiated carcinoma of the biliary tract are highly aggressive malignancies. In other organs, a subgroup of undifferentiated carcinoma related to SWI/SNF complex-deficiency have been described. CASE PRESENTATION: A 30-year-old woman presented with rising inflammatory markers (C-reactive protein (CRP)). Ultrasound examination revealed a large tumor of the liver. A computed tomography scan was performed and was primarily interpreted as a tumor-forming liver abscess, possibly caused by gallbladder perforation. Subsequent liver segment resection was performed. Microscopic examination showed an undifferentiated carcinoma with rhabdoid morphology and prominent inflammatory infiltrate in the gallbladder base. With SWI/SNF immunohistochemistry, intact expression of SMARCB1, SMARCA4, ARID1A, but loss of SMARCA2 and PBRM1 was detected. Next-generation-sequencing detected KRAS, PBRM1 and ARID1B mutations, a deleterious splice-site mutation in the POLE-gene and a mutation in the TP53-gene.

conclusionsWe were able to demonstrate loss of SMARCA2 expression and mutations characteristic of an SWI/SNF-deficient carcinoma in a tumor derived from the gallbladder. This is the first reported case of an undifferentiated carcinoma with rhabdoid features in the gallbladder carrying a POLE mutation and SWI/SNF-deficiency of PBRM1 and SMARCA2.

Indexed as

Biomarkers, TumorMutationAdultCell DifferentiationChromosomal Proteins, Non-HistoneDNA-Binding ProteinsDNA Mutational AnalysisDNA Polymerase IIFatal OutcomeFemaleGallbladder NeoplasmsGenetic Predisposition to DiseaseHigh-Throughput Nucleotide SequencingHumansImmunohistochemistryPhenotypeBiomarkers, TumorChromosomal Proteins, Non-HistoneDNA-Binding ProteinsDNA Polymerase IIPBRM1 protein, humanPOLE protein, humanPoly-ADP-Ribose Binding ProteinsSMARCA2 protein, humanSWI-SNF-B chromatin-remodeling complexTranscription FactorsCase reportGallbladder carcinomaRhabdoidSMARCA4SWI/SNF-deficiency

Identifiers

PMID34118935
PMCPMC8196506
OpenAlexW3169307050

What OpenQuestion holds

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LicenceCC BY
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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.