Desmoid tumours (DTs) are benign, non-inflammatory fibroblastic tumours (see WHO 2002 classification of soft tissue tumours) with a tendency to local invasion and recurrence but without metastasis.
They are rare tumours, thought to account for only ~0.03% of all neoplasms 6. Desmoid tumours are found in all age groups but are most frequently encountered between 20 and 40 years of age. They are seen more in women (2:1). They are rare lesions with an estimated incidence of 3 or 4 new cases per million population per year.
Desmoid tumours present as masses, and as such presentation depends on location.
Their exact aetiology remains uncertain, although they are frequently associated with previous trauma or surgical incision. On the molecular level, desmoids are characterised by mutations in the β-catenin gene, CTNNB1, or the adenomatous polyposis coli gene, APC 7.
- some cases have been associated with oestrogen therapy ref
- Gardner syndrome
- in the case of mesenteric desmoid they are seen either sporadically or in association with familial polyposis coli syndrome (FAP): 9-18 of FAP cases may have a desmoid tumour 8
Frequent locations in the abdomen are the abdominal wall, the root of the mesentery and the retroperitoneum.
Desmoid tumours are the commonest neoplasms of the abdominal wall and typically appear as homogeneously anechoic or hypoechoic masses. As such they should not be confused with cystic lesions. They may render an appearance like muscles, may be lobulated and may show vascularity on colour Doppler interrogation.
- most desmoid tumors are well circumscribed masses, although in some cases they may appear more aggressive with ill-defined margins
- most are relatively homogeneously or focally hyperattenuating when compared to soft tissue on the non-contrast scan.
- most will demonstrate enhancement following administration of intravenous contrast.
MRI, as is the case with other soft tissue tumours, is more sensitive to local tumour extension. Their appearance is accounted for by their dense cellularity. Typical signal characteristics include:
- T1: low signal intensity
- T2: low signal intensity
- T1 C+ (Gd): may show homogeneous, inhomogeneous, or no significant enhancement 8
Treatment and prognosis
Watchful waiting is now considered a reasonable option in selected asymptomatic patients 7. Other management options include:
- surgical resection (traditionally used, although recurrence rate is high)
- NSAIDs and anti-oestrogens can be used to reduce the rate of recurrence
History and etymology
The term "desmoid" originates from the Greek word "desmos" (Δεσμός’) meaning band or tendon-like.
- 1. Einstein DM, Tagliabue JR, Desai RK. Abdominal desmoids: CT findings in 25 patients. AJR Am J Roentgenol. 1991;157 (2): 275-9. AJR Am J Roentgenol (abstract) - Pubmed citation
- 2. Teo HE, Peh WC, Shek TW. Case 84: desmoid tumor of the abdominal wall. Radiology. 2005;236 (1): 81-4. doi:10.1148/radiol.2361031038 - Pubmed citation
- 3. Dinauer PA, Brixey CJ, Moncur JT et-al. Pathologic and MR imaging features of benign fibrous soft-tissue tumors in adults. Radiographics. 2007;27 (1): 173-87. Radiographics (full text) - doi:10.1148/rg.271065065 - Pubmed citation
- 4. Faria SC, Iyer RB, Rashid A et-al. Desmoid tumor of the small bowel and the mesentery. AJR Am J Roentgenol. 2004;183 (1): 118. doi:10.2214/ajr.183.1.1830118 - Pubmed citation
- 5. Bonvalot S, Desai A, Coppola S et-al. The treatment of desmoid tumors: a stepwise clinical approach. Ann. Oncol. 2012;23 Suppl 10 (suppl 10): x158-66. doi:10.1093/annonc/mds298 - Pubmed citation
- 6. Escobar C, Munker R, Thomas JO et-al. Update on desmoid tumors. Ann. Oncol. 2011;23 (3): 562-9. doi:10.1093/annonc/mdr386 - Pubmed citation
- 7. Kasper B, Ströbel P, Hohenberger P. Desmoid tumors: clinical features and treatment options for advanced disease. Oncologist. 2011;16 (5): 682-93. doi:10.1634/theoncologist.2010-0281 - Free text at pubmed - Pubmed citation
- 8. Azizi L, Balu M, Belkacem A et-al. MRI features of mesenteric desmoid tumors in familial adenomatous polyposis. AJR Am J Roentgenol. 2005;184 (4): 1128-35. doi:10.2214/ajr.184.4.01841128 - Pubmed citation
Synonyms & Alternative Spellings
|Synonyms or Alternative Spelling||Include in Listings?|
|Desmoid tumours (DTs)||✗|
|Desmoid tumour (DT)||✗|
|Deep musculoaponeurotic fibromatosis||✗|