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desmoid tumor
Etiology:
- history of trauma in 25%
- breast implant-associated desmoid tumors
- retroperitoneal neoplasms may be associated with surgery for familial polyposis coli or Gardner syndrome
Epidemiology:
- rare, most common in premenopausal women
Pathology:
- fibrous neoplasms originating from the muscular aponeuroses
- often infiltrative
- usually well-differentiated
- firm overgrowths of fibrous tissue
- locally invasive & aggressive, but not metastatic [2]
- tendency for recurrence
Genetics:
- see hereditary desmoid disease
Clinical manifestations:
- they most commonly develop in the anterior abdominal wall & shoulder girdle
- rarely appear on the foot
- tumors are firm, smooth, & mobile
- often adhere to surrounding structures
- overlying skin is usually unaffected
- intra-abdominal desmoid tumors remain asymptomatic until growth & infiltration cause visceral compression resulting in pain & functional impairment
Laboratory:
- biopsy with immunostaining for
- vimentin
- alpha smooth muscle actin
- muscle actin
- desmin
- APC gene mutation
Radiology:
- imaging useful for diagnosis & follow-up
- computed tomography
- magnetic resonance imaging
Management:
- surgery with negative surgical margins
- positive margins associated with high risk of recurrence
- radiation therapy
- nirogacestat (Ogsiveo) FDA approved to treat progressive, unresectable, recurrent, or refractory desmoid tumors [2]
Related
hereditary desmoid disease (familial infiltrative fibromatosis)
General
fibroma
References
- Schwartz RA and James WD
- Otto MA
FDA Approves Nirogacestat for Desmoid Tumors.
Medscape. November 27, 2023
https://www.medscape.com/viewarticle/998820