Evidence map›Paper›PMID 34981673›Full record

ArticleMolecular genetics & genomic medicine2022

Distribution of RET proto-oncogene variants in children with appendicitis.

Jurek Schultz, Ines Freibothe, Michael Haase, Patrick Glatte, Gustavo Barreton, Andreas Ziegler, Heike Görgens, Guido Fitze

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

Article in Molecular genetics & genomic medicine, 2022. 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
0.2field-weighted citation impact, top 52% of its field
1 · What the graph read from it

What it found

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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

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. Article
4 · The record

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5 · Who and what money

Authors and funding

8 authors at 2 institutions in 3 countries.

Jurek SchultzDepartment of Pediatric Surgery, University of Technology Dresden, Dresden, Germany.ORCID 0000-0001-5638-8663
Ines FreibotheDepartment of Pediatric Surgery, University of Technology Dresden, Dresden, Germany.
Michael HaaseDepartment of Pediatric Surgery, University of Technology Dresden, Dresden, Germany.
Patrick GlatteDepartment of Pediatric Surgery, University of Technology Dresden, Dresden, Germany.
Gustavo BarretonInstitute of Pathology, University of Technology Dresden, Dresden, Germany.
Andreas ZieglerMedizincampus Davos, Davos, Switzerland.
Heike GörgensDepartment of Surgical Research, University of Technology Dresden, Dresden, Germany.
Guido FitzeDepartment of Pediatric Surgery, University of Technology Dresden, Dresden, Germany.
Hochschule für Technik und Wirtschaft Dresden – University of Applied Sciences · DEUniversität Hamburg · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundIn addition to patient-related systemic factors directing the immune response, the pathomechanisms of appendicitis (AP) might also include insufficient drainage leading to inflammation caused by decreased peristalsis. Genetic predisposition accounts for 30%-50% of AP. M. Hirschsprung (HSCR), also characterized by disturbed peristalsis, is associated with variants in the RET proto-oncogene. We thus hypothesized that RET variants contribute to the etiology of AP.

methodsDNA from paraffin-embedded appendices and clinical data of 264 children were analyzed for the RET c.135A>G variant (rs1800858, NC_000010.11:g.43100520A>G). In 46 patients with gangrenous or perforated AP (GAP), peripheral blood DNA was used for RET sequencing.

resultsGermline mutations were found in 13% of GAP, whereas no RET mutations were found in controls besides the benign variant p.Tyr791Phe (NC_000010.11:g.43118460A>T). In GAP, the polymorphic G-allele in rs2435352 (NC_000010.11:g.43105241A>G) in intron 4 was underrepresented (p = 0.0317).

conclusionOur results suggest an impact of the RET proto-oncogene in the etiology of AP. Mutations were similar to patients with HSCR but no clinical features of HSCR were observed. The pathological phenotypes in both populations might thus represent a multigenic etiology including RET germline mutations with phenotypic heterogeneity and incomplete penetrance.

Indexed as

AppendicitisHirschsprung DiseaseProto-Oncogene Proteins c-retHumansProto-Oncogene Proteins c-retRET protein, humanappendicitisgeneral surgerygenetic association studiespediatricsproto-oncogene protein ret

Identifiers

PMID34981673
PMCPMC8830807
OpenAlexW4206717086

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