Evidence map›Paper›PMID 34657606›Full record

ArticleDiagnostic pathology2021

First presentation of a frameshift mutation in the SETD2 gene of a juvenile psammomatoid ossifying fibroma (JPOF) associated with an aneurysmal bone cyst.

A Toferer, A Truschnegg, K Kashofer, C Beham-Schmid, A Beham

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 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.3field-weighted citation impact, top 38% 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

1 citing paper in PubMed, 4 citations in OpenAlex.

  1. 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

5 authors at 1 institution in 1 country.

A TofererDivision of Oral and Maxillofacial Surgery, Medical University of Graz, Auenbruggerplatz 5, 8036, Graz, Austria. astrid.toferer@medunigraz.at.ORCID http://orcid.org/0000-0003-1374-9208
A TruschneggDivision of Dental Medicine and Oral Health, Medical University of Graz, Graz, Austria.
K KashoferDiagnostic and Research Center for Molecular BioMedicine, Diagnostic and Research Institute of Pathology, Medical University of Graz, Graz, Austria.
C Beham-SchmidDiagnostic and Research Center for Molecular BioMedicine, Diagnostic and Research Institute of Pathology, Medical University of Graz, Graz, Austria.
A BehamMedical University of Graz, Neue Stiftingtalstraße 6, 8036, Graz, Austria.
Medical University of Graz · AT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe rarity of juvenile psammomatoid ossifying fibroma (JPOF) and lack of cytogenetic studies prompted us to report a novel SETD2 gene mutation in a benign odontogenic tumour. CASE PRESENTATION: A 21-year-old man presented with a hard, expanded mandibular cortex. Computed tomography revealed multilocular radiopacity in the mandible; this was reconstructed via segmental mandibulectomy using a vascularised iliac crest flap. Based on the clinical and histological findings, we diagnosed JPOF associated with an aneurysmal bone cyst. Microscopically, the solid area was characterised by many rounded or angular ossicles in a cellular fibrous stroma. The stromal cells were spindle-like or stellate. Next-generation sequencing detected a frame shift mutation of the SETD2 gene, while the copy number was normal.

conclusionsOur findings suggest further genetic studies should be performed to assess whether this mutation is related to tumour genesis. .

Indexed as

Frameshift MutationBiomarkers, TumorBone Cysts, AneurysmalDNA Mutational AnalysisFibroma, OssifyingHigh-Throughput Nucleotide SequencingHistone-Lysine N-MethyltransferaseHumansMaleMandibular NeoplasmsOdontogenic TumorsYoung AdultBiomarkers, TumorHistone-Lysine N-MethyltransferaseSETD2 protein, humanAneurysmal bone cystFrameshift mutationJPOFJuvenile psammomatoid ossifying fibromaMandibleNext-generation sequencingSETD2 gene

Identifiers

PMID34657606
PMCPMC8520634
OpenAlexW3207022872

What OpenQuestion holds

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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.