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Comment on: Risk factors and protective measures for desmoid tumours in familial adenomatous polyposis: retrospective cohort study

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Davide Serrano

European Institute of Oncology IRCCS, Milan, Italy

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Lucio Bertario

European Institute of Oncology IRCCS, Milan, Italy

7 February 2025
https://doi.org/10.58974/bjss/azbc079
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Correspondence to: Dr. Davide Serrano (email: davide.serrano@ieo.it)
Division of Cancer Prevention and Genetics
European Insitute of Oncology
Via Ripamonti 435
Milano 20141
Italy
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BJS Openhttps://doi.org/10.1093/bjsopen/zrae148, published 30 December 2024
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Dear Editor
The article by Rausa et al. investigates desmoid risk factors in people with familial adenomatous polyposis (FAP).
The topic is important as approximately 1 of 5 people with FAP will develop a desmoid tumour after surgical treatment, yet these subjects need prophylactic surgery for the extremely high penetrance of their syndrome.
The authors showed that, besides a positive family history, open surgery versus laparoscopic surgery and proctocolectomy versus colectomy increase the risk of desmoid tumours two and three times, respectively. In contrast, histology at surgery (adenomas versus cancer) is protective. This may raise an issue in choosing the most appropriate surgical approach, as proctocolectomy is the more effective prophylactic surgery. A negative family history of desmoid may encourage the choice of this approach, whereas a colectomy may be preferable in the presence of family history.
The authors may agree that a description of the desmoid tumours found, along with the staging, could have been interesting for its clinical implications.
In the literature, sex and gene variants are usually associated with the risk of desmoids. Female sex and adenomatous polyposis colimutations between codons 543-713 and 1310-2011 are associated with increased risk. The relation between desmoid tumours and genotype may not be assumed by looking specifically at intra-abdominal desmoids5.
More comments on these topics would have been appreciated in the discussion.
We realize that the numbers do not allow a subgroup analysis, but to see just descriptive data on the difference between the intra-abdominal and the abdominal wall desmoids could have been interesting in their relation to the type of surgery and the histology. Although the data would be taken only as speculative, they could help define the questions to address in future studies to improve preventive strategies and clinical management of this critical issue.
References
Rausa E, Duroni V, Ferrari D, Signoroni S, Ciniselli CM, Lauricella S et al. Risk factors and protective measures for desmoid tumours in familial adenomatous polyposis: retrospective cohort study. BJS Open 2024;9: https://doi.org/10.1093/bjsopen/zrae148
Church J, Berk T, Boman BM, Guillem J, Lynch C, Lynch P et al. Staging Intra-Abdominal Desmoid Tumors in Familial Adenomatous Polyposis: A Search for a Uniform Approach to a Troubling Disease. Dis Colon Rectum 2005;48:1528–1534.
Sommovilla J, Shepard D, Liska D. Management of Desmoid Disease in Familial Adenomatous Polyposis. Clin Colon Rectal Surg 2024;37:185–190.
Slowik V, Attard T, Dai H, Shah R, Septer S. Desmoid tumors complicating Familial Adenomatous Polyposis: A meta-analysis mutation spectrum of affected individuals. BMC Gastroenterol 2015;15, doi: https://doi.org/10.1186/s12876-015-0306-2.
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