Disease Directory Desmoid Tumor
Oncology

Desmoid Tumor

Also known as: aggressive fibromatosis, desmoid-type fibromatosis, CTNNB1/APC mutation

Prevalence

2–4 in 1,000,000

Onset

Young to middle-aged adult; FAP-associated tumours may present in 3rd decade

Type

Sporadic (somatic CTNNB1 mutation) or familial (germline APC mutation in FAP)

Gene

CTNNB1, APC

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

Palpable, firm, painless or mildly painful soft tissue mass most commonly in the abdominal wall, mesentery, or extremity Mesenteric desmoids (common in FAP) causing bowel obstruction, ureteric compression, or mesenteric ischaemia Progressive pain and restricted range of motion when tumours involve extremity musculature or nerves Peripheral neuropathy from perineural tumour infiltration Bowel fistula or perforation from mesenteric desmoid erosion into adjacent intestinal loops Chest wall or thoracic desmoids causing dyspnoea or chest pain from pleural or mediastinal involvement Rapid growth during pregnancy due to oestrogen sensitivity in some tumours

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

Patient Organization

Desmoid Tumor Research Foundation

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Natural History Registry

DTRF Patient Registry

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Orphanet

European reference resource for rare diseases (ORPHA:873)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Desmoid Tumor trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Desmoid Tumor. Updated daily.

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