ArticlePloS one2021
Clinicopathological features of 70 desmoid-type fibromatoses confirmed by β-catenin immunohistochemical staining and CTNNB1 mutation analysis.
Article in PloS one, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 19 citations in OpenAlex.
- Integrative Genomic Profiling of Pediatric Solid Tumors Reveals Clinically Relevant Variants and Chromosomal Arm Aneuploidies Signatures.Cancer medicine · 2026Article
- Advances in the Basic Sciences in Thoracic Oncology in the Last 20 Years and Their Translational Impact.Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer · 2026Review
- Deep proteogenomic characterization of pancreatic solid pseudopapillary neoplasm reveals unique features distinct from other pancreatic tumors.Biomarker research · 2025Article
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- Pseudoendocrine sarcoma: a rare new entity with unique radiologic and pathologic/molecular characteristics.Skeletal radiology · 2025Article
- Different Shades of Desmoid-Type Fibromatosis (DTF): Detection of Noval Mutations in the Clinicopathologic Analysis of 32 Cases.Diagnostics (Basel, Switzerland) · 2024Article
- Nucleocytoplasmic β-catenin expression contributes to neuroendocrine differentiation in muscle invasive bladder cancer.Cancer science · 2024Article
- Utility of LEF1 to differentiate desmoid fibromatosis from its histologic mimics.Virchows Archiv : an international journal of pathology · 2024Article
- Case report: Intra-abdominal aggressive fibromatosis: A rare cause of hyperemesis.Frontiers in surgery · 2023Article
- Molecular testing of soft tissue tumors.Diagnostic cytopathology · 2023Review
- Article
- Molecular Pathogenesis of Sporadic Desmoid Tumours and Its Implications for Novel Therapies: A Systematised Narrative Review.Targeted oncology · 2022Review
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Desmoid-type fibromatosis (DF) is a locally aggressive neoplasm characterized by mutations in the CTNNB1 gene, which encodes the β-catenin protein. We reviewed 85 cases of DF and performed Sanger sequencing for detecting mutations in CTNNB1 and immunostaining for detecting β-catenin localization. We included 70 DF samples, of which 56 cases demonstrated nuclear β-catenin localization and 43 cases harboured CTNNB1 mutations. CTNNB1-mutant DF samples consistently displayed nuclear β-catenin expression and were derived from larger-sized tumours compared to samples with wild-type CTNNB1. When we further classified DF cases into 2 subgroups based on the type of specimen, excised specimens with nuclear β-catenin expression frequently displayed CTNNB1 mutation and no statistical correlation between nuclear β-catenin expression and CTNNB1 mutation was observed in biopsies. When we classified CTNNB1 mutation cases into 2 subgroups (DF with T41A or T41I, and DF with S45F or S45P), T41A or T41I mutations were observed more frequently in males than in females. Additionally, DF tumours harbouring S45F or S45P mutations were located more frequently in the abdominal wall than tumours with T41A or T41I mutations. In conclusion, CTNNB1 mutation correlates with nuclear β-catenin expression in larger or excised DF tumours, and DF harbouring CTNNB1 mutations manifest variable clinical presentations.
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