About Desmoid Tumor
Desmoid tumours are rare, locally invasive fibroblastic neoplasms that do not metastasise but cause significant morbidity through infiltrative growth into adjacent structures, nerves, and viscera. They arise from somatic activating mutations in CTNNB1 (encoding beta-catenin) in approximately 90% of sporadic cases, or in the setting of familial adenomatous polyposis (FAP) due to germline APC mutations that result in constitutive WNT/beta-catenin signalling. The clinical behaviour is highly unpredictable — some tumours spontaneously stabilise or regress, while others progress rapidly and become unresectable, necessitating systemic therapy.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Desmoid Tumor trials.
Molecular subtyping by CTNNB1 exon 3 mutation status (T41A, S45F, S45P) or APC germline testing is increasingly used for risk stratification and may be an eligibility or stratification criterion in trials.
A watch-and-wait observation period is now standard of care for non-progressive disease; trials may require documented progression within a specified prior timeframe — provide dated imaging series demonstrating progression.
FAP-associated desmoid tumours may have different biology and eligibility criteria from sporadic tumours; clarify FAP status and provide relevant genetic and colonoscopy documentation.
Patient Resources
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