ArticleGenes, chromosomes & cancer2015
Near universal detection of alterations in CTNNB1 and Wnt pathway regulators in desmoid-type fibromatosis by whole-exome sequencing and genomic analysis.
Article in Genes, chromosomes & cancer, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 77 papers.
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Who cites it
77 citing papers in PubMed, 167 citations in OpenAlex.
- Molecular Mechanisms Underlying Progression and Spontaneous Regression in Desmoid Tumors.International journal of molecular sciences · 2026Review
- Intra-Abdominal Sporadic Desmoid Tumors with CanonicalInternational journal of molecular sciences · 2026Article
- Review
- Impact of Anatomical Localization on Systemic Inflammatory Markers and Immune Checkpoint CD47 in Desmoid Tumors.Journal of clinical medicine · 2026Article
- Desmoid fibromatosis in a child with DICER1-related tumor predisposition.Virchows Archiv : an international journal of pathology · 2026Article
- CTNNB1 Mutational analysis enhances diagnostic precision in β-catenin-negative desmoid fibromatosis: a clinicopathological and molecular study.Virchows Archiv : an international journal of pathology · 2026Article
- Gardner syndrome initially misdiagnosed as bilateral breast malignancy: a case report and literature review.Frontiers in oncology · 2026Article
- Management of Desmoid Tumors.Current oncology reports · 2025Review
- Desmoid Tumors-Experience from a Referral Center, Part 1: Multidisciplinary Review and Practical Recommendations.Cancers · 2025Review
- Clinicopathological analysis of three cases of breast desmoid-type fibromatosis.BMC women's health · 2025Article
- Surgical Management of Desmoid Tumors-Patient Selection, Timing, and Approach.Current oncology (Toronto, Ont.) · 2025Review
- Updates and controversies for desmoids in familial adenomatous polyposis.Familial cancer · 2025Review
- Case report: a case of pelvic retroperitoneal aggressive fibromatosis misdiagnosed as ovarian cystadenoma.Internal and emergency medicine · 2025Article
- Active Surveillance in Patients with Extra-abdominal Desmoid-Type Fibromatosis: A Pooled Analysis of Three Prospective Observational Studies.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025Observational
- Challenges in Diagnosing Adolescent Goiter: A Case Report with Brief Literature Insights in Juvenile Desmoid-Type Fibromatosis of the Thyroid Gland.Journal of clinical medicine · 2025Review
- Genomic, Epigenomic, and Transcriptomic Inter- and Intratumor Heterogeneity in Desmoid Tumors.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025Article
- Case Report: A case of new-onset retroperitoneal aggressive fibromatosis after resection of solid pseudopapillary tumor of the pancreas and review of the literature.Frontiers in oncology · 2025Article
- DNA Mismatch Repair Deficiency as a Biomarker in Sarcoma.Surgical oncology insight · 2024Article
- Circulating Tumor DNA in Patients with Desmoid Fibromatosis during Active Surveillance.Annals of surgical oncology · 2024Article
- Transarterial doxorubicin-eluting beads embolization for the treatment of desmoid fibromatosis in the pubic region.Radiology case reports · 2024Article
17 more citing papers are in PubMed but not listed here.
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Authors and funding
14 authors at 6 institutions in 1 country.
Funding
Abstract
CTNNB1 mutations or APC abnormalities have been observed in ∼85% of desmoids examined by Sanger sequencing and are associated with Wnt/β-catenin activation. We sought to identify molecular aberrations in "wild-type" tumors (those without CTNNB1 or APC alteration) and to determine their prognostic relevance. CTNNB1 was examined by Sanger sequencing in 117 desmoids; a mutation was observed in 101 (86%) and 16 were wild type. Wild-type status did not associate with tumor recurrence. Moreover, in unsupervised clustering based on U133A-derived gene expression profiles, wild-type and mutated tumors clustered together. Whole-exome sequencing of eight of the wild-type desmoids revealed that three had a CTNNB1 mutation that had been undetected by Sanger sequencing. The mutation was found in a mean 16% of reads (vs. 37% for mutations identified by Sanger). Of the other five wild-type tumors sequenced, two had APC loss, two had chromosome 6 loss, and one had mutation of BMI1. The finding of low-frequency CTNNB1 mutation or APC loss in wild-type desmoids was validated in the remaining eight wild-type desmoids; directed miSeq identified low-frequency CTNNB1 mutation in four and comparative genomic hybridization identified APC loss in one. These results demonstrate that mutations affecting CTNNB1 or APC occur more frequently in desmoids than previously recognized (111 of 117; 95%), and designation of wild-type genotype is largely determined by sensitivity of detection methods. Even true CTNNB1 wild-type tumors (determined by next-generation sequencing) may have genomic alterations associated with Wnt activation (chromosome 6 loss/BMI1 mutation), supporting Wnt/β-catenin activation as the common pathway governing desmoid initiation.
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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.