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Desmoid tumours are locally aggressive growths of fibroblast-like cells, classed with soft-tissue sarcomas, driven by WNT mutations, that never spread to distant organs but can invade nerves, bowel and muscle. Many stop growing or shrink on their own, so watching first is standard; if they progress, the gamma-secretase inhibitor nirogacestat, approved in 2023, shrinks tumours and relieves pain.
Desmoid tumours are monoclonal fibroblastic proliferations driven by WNT pathway activation: about 85 percent carry somatic CTNNB1 (beta-catenin) mutations (T41A, S45F, S45P) and most of the rest arise in familial adenomatous polyposis through germline APC loss. They do not metastasise but infiltrate locally in the abdominal wall, mesentery, limbs and trunk, and their course is unpredictable: a substantial fraction stabilise or regress spontaneously, which is why the Desmoid Tumor Working Group consensus (2020) recommends active surveillance as the initial approach for most patients, with treatment reserved for progression or symptoms.
When treatment is needed the order has inverted over two decades: surgery, once first line, is now used selectively because recurrence after resection is common (S45F mutations and extra-abdominal sites recur most). Medical options are sorafenib (Alliance A091105, NEJM 2018: longer progression-free survival than placebo), nirogacestat (DeFi, NEJM 2023: fewer progressions than placebo with improvements in pain, symptom burden and physical function; FDA approval November 2023, the first drug approved for desmoid tumours), low-dose methotrexate-vinblastine or vinorelbine, and anthracycline chemotherapy for rapidly progressive disease. Cryoablation and high-intensity focused ultrasound offer local control for extra-abdominal tumours.
Gamma-secretase inhibitors block NOTCH cleavage, and their class toxicity is ovarian dysfunction in women of reproductive age, often reversible; a second agent, AL102, has completed the RINGSIDE phase 3. Open questions are how long to treat, whether intermittent dosing preserves benefit, and how to sequence surveillance, ablation and drugs.
Roughly 2 to 5 new cases per million people per year, most often in young adults; more common in women and in people with familial adenomatous polyposis.
Bone sarcomas favour the fast-growing ends of long bones (osteosarcoma) or the shaft (Ewing), soft tissue sarcomas the deep muscle compartments; spread is through the blood to the lungs, rarely via lymph nodes.
Lymph node spread is rare (except epithelioid, synovial, clear cell and rhabdomyosarcoma); sarcomas go through the blood to the lungs.
Same organ: Adamantinoma of bone, Dedifferentiated chordoma, Poorly differentiated chordoma (SMARCB1-deficient), Desmoplastic small round cell tumour, Leiomyosarcoma, Liposarcoma, Synovial sarcoma, Sarcomas (soft tissue, bone, GIST), Osteosarcoma, Ewing sarcoma, Rhabdomyosarcoma, Chordoma, Tenosynovial giant cell tumour (TGCT), Epithelioid sarcoma, Vascular tumours (angiosarcoma, epithelioid haemangioendothelioma, kaposiform haemangioendothelioma), Chondrosarcoma, Angiosarcoma, Undifferentiated pleomorphic sarcoma (UPS), Myxofibrosarcoma, Alveolar soft part sarcoma, Perivascular epithelioid cell tumour (PEComa), Epithelioid haemangioendothelioma, Malignant peripheral nerve sheath tumour (MPNST), Retroperitoneal sarcoma, Soft tissue sarcoma of the extremity (localised and advanced)
Nothing recorded yet.
Nothing recorded yet.
Also on OnCo: Symptoms and red flags · Early detection roadmap.
Active surveillance with MRI at 1 to 2 months, then every 3 to 6 months; treat only on progression or symptoms.
Nirogacestat (DeFi) or sorafenib (Alliance A091105); alternatives include methotrexate-vinblastine, vinorelbine, anthracycline-based chemotherapy for rapidly progressive disease, and cryoablation for accessible extra-abdominal tumours.
Reserved for selected abdominal wall tumours or complications (bowel obstruction, fistula); margins do not reliably predict recurrence.
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One cancer page on OnCo cites this paper by its DOI; this record gives the citation a page of its own so a reader can follow it without leaving OnCo. Read the abstract above alongside the citing page listed under Related; the record was created automatically from the Europe PMC entry and its figures have not been checked by hand.
One cancer page on OnCo cites this paper by its DOI; this record gives the citation a page of its own so a reader can follow it without leaving OnCo. Read the abstract above alongside the citing page listed under Related; the record was created automatically from the Europe PMC entry and its figures have not been checked by hand.
Query for this cancer: (TITLE:"Desmoid tumour" OR ABSTRACT:"Desmoid tumour" OR TITLE:"Aggressive fibromatosis" OR ABSTRACT:"Aggressive fibromatosis" OR TITLE:"Desmoid-type fibromatosis" OR ABSTRACT:"Desmoid-type fibromatosis") AND (treatment OR therapy OR trial OR survival OR diagnosis). Results are unfiltered search hits about Desmoid tumour, not a curated reading list.
Named from the Greek for band-like.
Tejpar and colleagues.
French Sarcoma Group and others show frequent spontaneous stabilisation, seeding the surveillance-first approach.
Gounder and colleagues, NEJM.
Active surveillance as initial management for most patients (Eur J Cancer).
DeFi phase 3 (NEJM 2023); FDA approval 27 November 2023, the first for desmoid tumours.
The targets of this cancer's medicines and the ones linked to it directly.
| Target / alteration | Prevalence | Measure | Source |
|---|---|---|---|
| Gamma-secretase (PSEN1) | about 85% | CTNNB1 mutation in sporadic desmoid tumours, the Wnt activation that Notch inhibition addresses | doi.org |
How common each drug target or alteration is in this cancer. Population-level and approximate; see the target page for detail. Full matrix.
Cases by country, the UK and NHS pathway and other country lenses, the expert centres with trials on record, and the centres named on this cancer's subtypes.
One section per setting: the options named, what each is for, the trials behind them, the recorded trade-offs and the questions to ask.
Bleeding that does not stop by itself, bleeding from more than one site, or new bruising in several places or one large area.
Sudden severe abdominal pain, a hard or very tender abdomen, or abdominal pain with vomiting and fever. Boxed warning for gastrointestinal perforation on bevacizumab.
Fainting, near-fainting, or an irregular or racing heartbeat; several kinase inhibitors prolong the QT interval and the labels require ECG and electrolyte monitoring.
Take without food (1 hour before or 2 hours after).
Possible QT prolongation. Check ECG and electrolytes; review other QT-prolonging drugs.
High-dose methotrexate requires normal renal function, hydration, urine alkalinisation and leucovorin rescue with level monitoring.
See all on the product pages:MethotrexateSorafenib·Printable cards in the navigator
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