• Desmoid tumor derived from myofibroblast cells in musculoaponeurotic structures
    • Often arise from scars in skeletal muscle, and then proceed to infiltrate adjacent muscles
    • Infiltration often causes muscle breakdown, palpable firmness on physical examination (without skin involvement)
  • Benign histologically, but often appear infiltrative and locally aggressive on imaging studies
  • High rate of recurrence
  • No specific gene mutation associated with sporadic desmoid tumors, although increase seen in familial adenomatous polyposis (also known as Gardner syndrome)
    • Adenomatous polyposis coli (APC) gene on chromosome 5 has point mutations in Gardner syndrome, and 10-15% of patients have desmoid tumors
    • Desmoid tumors have APC mutations, which may be spontaneous
  • Desmoid tumors may also have endocrine component; often regress during menopause or hormone treatment (including use of oral contraceptives)
  • More common in females
  • Most common in adults in second through fifth decades of life
  • Most common locations: anterior abdominal wall and shoulder girdle (although retroperitoneal tumors are common in patients with Gardner syndrome
    • In abdominal neoplasms, patients may complain of swelling or problems from visceral compression; in extremity neoplasms, complaint is often gradual limb swelling
  • MRI most useful for following desmoid tumors due to its superior delineation of soft tissue anatomy
    • May also be used to follow patients post-operatively for recurrence, which occurs in up to 70% of cases
  • Tumors must be biopsied for diagnosis, and histology shows abundant collagen surrounding poorly circumscribed bundles of spindle cells with regular nuclei and pale cytoplasm
  • Treatment: Wide resection with negative surgical margins; positive margins associated with high risk of recurrence
    • Radiation used for recurrence or where surgical resection is not possible
    • Chemotherapy may also be used for recurrence: doxorubicin, dacarbazine, carboplatin


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