ArticleEuropean journal of human genetics : EJHG2015
Identification of previously unrecognized FAP in children with Gardner fibroma.
Article in European journal of human genetics : EJHG, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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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.
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Who cites it
7 citing papers in PubMed, 14 citations in OpenAlex.
- Gardner Fibroma Presenting as a Suspected Encephalocele: A Case Report and Literature Review.Cureus · 2025Article
- Analysis of germline variants in pediatric patients diagnosed with desmoid tumors and nuchal-type fibromas.Translational pediatrics · 2023Article
- Review
- Soft Tissue Special Issue: Fibroblastic and Myofibroblastic Neoplasms of the Head and Neck.Head and neck pathology · 2020Review
- Identification of aggressive Gardner syndrome phenotype associated with a de novoCold Spring Harbor molecular case studies · 2019Article
- From Gardner fibroma diagnosis to constitutionalClinical case reports · 2017Article
- Neonatal Gardner Fibroma Leads to Detection of Familial Adenomatous Polyposis: Two Case Reports.European journal of pediatric surgery reports · 2016Article
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fibromatous soft tissue lesions, namely desmoid-type fibromatosis and Gardner fibroma, may occur sporadically or as a result of inherited predisposition (as part of familial adenomatous polyposis, FAP). Whereas desmoid-type fibromatosis often present β-catenin overexpression (by activating CTNNB1 somatic variants or APC biallelic inactivation), the pathogenetic mechanisms in Gardner fibroma are unknown. We characterized in detail Gardner fibromas diagnosed in two infants to evaluate their role as sentinel lesions of previously unrecognized FAP. In the first infant we found a 5q deletion including APC in the tumor and the novel APC variant c.4687dup in constitutional DNA. In the second infant we found the c.5826_5829del and c.1678A>T APC variants in constitutional and tumor DNA, respectively. None of the constitutional APC variants occurred de novo and both tumors showed nuclear staining for β-catenin and no CTNNB1 variants. We present the first comprehensive characterization of the pathogenetic mechanisms of Gardner fibroma, which may be a sentinel lesion of previously unrecognized FAP families.
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