Evidence map›Paper›PMID 40016412›Full record

ArticleBJC reports2025

Activation of FGFR genes by genetic and epigenetic alterations in uterine leiomyomas.

Vilja Jokinen, Aurora Taira, Åsa Kolterud, Isa Ahlgren, Kimmo Palin, Riku Katainen, Maritta Räisänen, Eevi Kaasinen, Sini Ilves, Anniina Raitila and 8 more

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Article in BJC reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
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

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3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

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4 · The record

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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

18 authors.

Vilja JokinenDepartment of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.
Aurora TairaDepartment of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.
Åsa KolterudDepartment of Medicine Huddinge, Division of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden.
Isa AhlgrenDepartment of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.
Kimmo PalinDepartment of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.
Riku KatainenDepartment of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.
Maritta RäisänenDepartment of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.
Eevi KaasinenDepartment of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.
Sini IlvesDepartment of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.
Anniina RaitilaDepartment of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.
Helena Kopp KallnerDepartment of Clinical Sciences, Danderyd Hospital, Karolinska Institutet, Stockholm, Sweden.
Emma SiiliDepartment of Pathology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Ralf BützowApplied Tumor Genomics Research Program, Research Programs Unit, University of Helsinki, Helsinki, Finland.
Oskari HeikinheimoDepartment of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Annukka PasanenDepartment of Pathology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Auli KarhuDepartment of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.
Niko VälimäkiDepartment of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.
Lauri A AaltonenDepartment of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland. lauri.aaltonen@helsinki.fi.ORCID https://orcid.org/0000-0001-6839-4286

Funding

European Research Council 695727iCAN Digital Precision Cancer Medicine Flagship 320185Research Council of Finland 352814Sigrid Juséliuksen Säätiö 230002Vetenskapsrådet 2021-02298
6 · The paper itself

Abstract

backgroundFibroblast growth factor 1-4 (FGFR1-4) are well-known oncogenic drivers in many cancer types. Here, we studied the role of FGFRs in uterine leiomyoma (UL) that is a benign neoplasm arising from the myometrium and the most common tumour in women. Although ULs can be classified to molecular subtypes based on genetic drivers, potential secondary drivers are not well characterised.

methodsWe performed mutation analysis of RNA-sequencing data of ULs, followed by screening of FGFR alterations in our Finnish (n = 2677) and Swedish (n = 372) UL collections, utilising Sanger-, next-generation and Nanopore sequencing and SNP array data. The role of FGFR genes in UL predisposition was examined by GWAS.

resultsWe identified FGFR activation in a subset of ULs on both genetic and epigenetic levels. In addition to single-nucleotide mutations in FGFR1/2, we detected an FGFR2-ERC1 fusion gene, FGFR1 gains and hypomethylation of regulatory regions of FGFR2/3. FGFR alterations were enriched in molecularly similar HMGA2, HMGA1 and PLAG1 UL subtypes. We also unveil a UL predisposing variant upstream of FGFR4 associated with increased expression in both normal myometrium and ULs.

conclusionsOur results establish the role of FGFR signalling in the genesis of UL.

Identifiers

PMID40016412
PMCPMC11868550

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