Evidence map›Paper›PMID 34065301›Full record

ArticleGenes2021

Clinical and Molecular Features of Skin Malignancies in Muir-Torre Syndrome.

Dario Simic, Reinhard Dummer, Sandra N Freiberger, Egle Ramelyte, Marjam-Jeanette Barysch

Open access · goldAbstract read
In one paragraph

Article in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
1.2field-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

8 citing papers in PubMed, 13 citations in OpenAlex.

  1. Trial
  2. Muir-Torre Syndrome: A Rare Case Report and Review of Literature.Clinical, cosmetic and investigational dermatology · 2026
    Article
  3. Review
  4. Article
  5. Muir-Torre syndrome in Fitzpatrick skin phototype V assessed by dermoscopy and reflectance confocal microscopy.Skin research and technology : official journal of International Society for Bioengineering and the Skin (ISBS) [and] International Society for Digital Imaging of Skin (ISDIS) [and] International Society for Skin Imaging (ISSI) · 2024
    Article
  6. Muir-Torre Syndrome: A Cutaneous Finding Amidst Broader Malignancies.American journal of clinical dermatology · 2023
    Review
  7. Article
  8. Detection ofJournal of oncology · 2021
    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.

Dario SimicDepartment of Dermatology, University Hospital Zurich, Raemistrasse 100, 8091 Zurich, Switzerland.
Reinhard DummerFaculty of Medicine, University of Zurich, Raemistrasse 71, 8006 Zurich, Switzerland.ORCID 0000-0002-2279-6906
Sandra N FreibergerFaculty of Medicine, University of Zurich, Raemistrasse 71, 8006 Zurich, Switzerland.ORCID 0000-0001-6874-9649
Egle RamelyteDepartment of Dermatology, University Hospital Zurich, Raemistrasse 100, 8091 Zurich, Switzerland.
Marjam-Jeanette BaryschDepartment of Dermatology, University Hospital Zurich, Raemistrasse 100, 8091 Zurich, Switzerland.
University of Zurich · CH

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundWe investigated the mutational landscape of skin tumors in patients with Muir-Torre Syndrome (MTS) a hereditary autosomal dominant mismatch repair disorder of increased cancer susceptibility, and examined mutations other than in the DNA mismatch repair (MMR) genes.

methodsThis retrospective single-center case series included seven patients with the diagnosis of Muir-Torre Syndrome with precise medical history and family history. Mutational analysis of tumor samples Formalin-fixed paraffin-embedded tissue blocks of skin lesions associated with Muir-Torre Syndrome were used for further analysis. All skin tumors were analyzed with the Oncomine Comprehensive Assay v3 (Life Technologies), which includes 161 of the most relevant cancer driver genes.

resultsEleven skin neoplasms (nine sebaceous tumors, one melanoma, one cutaneous squamous cell carcinoma) were diagnosed in seven patients. In two patients, visceral malignancies preceded the diagnosis of the skin tumors and one patient was diagnosed with a visceral malignancy after a sebaceous tumor. History of familial cancer of Lynch Syndrome (LS) was reported in three patients. The most frequently detected mutation was in the

Indexed as

AgedCarcinoma, Squamous CellFemaleGenetic TestingHigh-Throughput Nucleotide SequencingHumansMaleMelanomaMiddle AgedMuir-Torre SyndromeMutationMutS Homolog 2 ProteinReceptor, Notch1Receptor, Notch2Sequence Analysis, DNASkin NeoplasmsMSH2 protein, humanMutS Homolog 2 ProteinNOTCH1 protein, humanNOTCH2 protein, humanReceptor, Notch1Receptor, Notch2TP53 protein, humanTumor Suppressor Protein p53family historymolecular analysisMuir-Torre Syndromenext-generation sequencing

Identifiers

PMID34065301
PMCPMC8160778
OpenAlexW3163997653

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.