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
• 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

More general terms

• fibroma

Additional terms

• hereditary desmoid disease (familial infiltrative fibromatosis)

Patient information

desmoid tumor patient information