ArticlePloS one2011
Familial adenomatous polyposis-associated desmoids display significantly more genetic changes than sporadic desmoids.
Article in PloS one, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 26 citations in OpenAlex.
- Review
- Updates and controversies for desmoids in familial adenomatous polyposis.Familial cancer · 2025Review
- Recent Advances and Current Management for Desmoid Tumor Associated with Familial Adenomatous Polyposis.Journal of the anus, rectum and colon · 2023Review
- Activity of the Gamma Secretase Inhibitor AL101 in Desmoid Tumors: A Case Report of 2 Adult Cases.Current oncology (Toronto, Ont.) · 2021Article
- The Management of Desmoid Tumors: A Retrospective Study of 30 Cases.International journal of surgical oncology · 2020Article
- Fibromatosis - immunohistochemical evaluation, differential diagnosis from gastrointestinal tumors, and other mesenchymal tumours.Przeglad gastroenterologiczny · 2019Article
- Scar management in burn injuries using drug delivery and molecular signaling: Current treatments and future directions.Advanced drug delivery reviews · 2018Review
- Tumor suppressor genes in familial adenomatous polyposis.Gastroenterology and hepatology from bed to bench · 2017Review
- Desmoid Fibromatosis Presenting as Deep Venous Thrombosis: A Case Report and Discussion.The American journal of case reports · 2016Article
- Neonatal Gardner Fibroma Leads to Detection of Familial Adenomatous Polyposis: Two Case Reports.European journal of pediatric surgery reports · 2016Article
- Resection and Abdominal Wall Reconstruction of a Desmoid Tumor with Endometrioma Features.Case reports in surgery · 2016Article
- Observational
- Time trends in the incidence and treatment of extra-abdominal and abdominal aggressive fibromatosis: a population-based study.Annals of surgical oncology · 2015Article
- Identification of previously unrecognized FAP in children with Gardner fibroma.European journal of human genetics : EJHG · 2015Article
- A prognostic nomogram for prediction of recurrence in desmoid fibromatosis.Annals of surgery · 2013Article
- Article
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Authors and funding
14 authors at 6 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Desmoid tumours (also called deep or aggressive fibromatoses) are potentially life-threatening fibromatous lesions. Hereditary desmoid tumours arise in individuals affected by either familial adenomatous polyposis (FAP) or hereditary desmoid disease (HDD) carrying germline mutations in APC. Most sporadic desmoids carry somatic mutations in CTNNB1. Previous studies identified losses on 5q and 6q, and gains on 8q and 20q as recurrent genetic changes in desmoids. However, virtually all genetic changes were derived from sporadic tumours. To investigate the somatic alterations in FAP-associated desmoids and to compare them with changes occurring in sporadic tumours, we analysed 17 FAP-associated and 38 sporadic desmoids by array comparative genomic hybridisation and multiple ligation-dependent probe amplification. Overall, the desmoids displayed only a limited number of genetic changes, occurring in 44% of cases. Recurrent gains at 8q (7%) and 20q (5%) were almost exclusively found in sporadic tumours. Recurrent losses were observed for a 700 kb region at 5q22.2, comprising the APC gene (11%), a 2 Mb region at 6p21.2-p21.1 (15%), and a relatively large region at 6q15-q23.3 (20%). The FAP-associated desmoids displayed a significantly higher frequency of copy number abnormalities (59%) than the sporadic tumours (37%). As predicted by the APC germline mutations among these patients, a high percentage (29%) of FAP-associated desmoids showed loss of the APC region at 5q22.2, which was infrequently (3%) seen among sporadic tumours. Our data suggest that loss of region 6q15-q16.2 is an important event in FAP-associated as well as sporadic desmoids, most likely of relevance for desmoid tumour progression.
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