Aggressive fibromatosis
Aggressive fibromatosis or desmoid tumor is a rare condition. Desmoid tumors are a type of fibromatosis and related to sarcoma, though without the ability to spread throughout the body (metastasize). The tumors arise from cells called fibroblasts, which are found throughout the body and provide structural support, protection to the vital organs, and play a critical role in wound healing. These tumors tend to occur in women in their thirties, but can occur in anyone at any age. They can be either relatively slow-growing or malignant. However, aggressive fibromatosis is locally aggressive and can cause life-threatening problems or even death when the tumors compress vital organs such as intestines, kidneys, lungs, blood vessels, or nerves. The condition is rarely fatal. Most cases are sporadic, but some are associated with familial adenomatous polyposis (FAP). Approximately 10% of individuals with Gardner's syndrome, a type of FAP with extracolonic features, have desmoid tumors.
| Aggressive fibromatosis | |
|---|---|
| Other names | Desmoid tumor, deep fibromatosis, desmoid fibromatosis |
| Desmoid tumor as seen on CT scan | |
| Specialty | Oncology, surgery, radiology |
| Complications | Pain, loss of function, restricted movement |
| Usual onset | 30–40 years |
| Risk factors | CTNNB1 and APC gene mutations, familial adenomatous polyposis, estrogen levels, pregnancy, physical trauma or surgery |
| Diagnostic method | Biopsy |
| Differential diagnosis | Broad, including fibroblastic sarcomas, superficial fibromatosis, nodular fasciitis, gastrointestinal stromal tumor, and scar tissue |
| Treatment | Watchful waiting; surgery; radiation therapy‚ chemotherapy; antiestrogen medication; NSAIDs; ablation with cold, heat, or ultrasound |
| Incidence | 5–6 per million per year |
The World Health Organization reclassified desmoid tumors (termed desmoid-type fibromatosis) as a specific type of tumor in the category of intermediate (locally aggressive) fibroblastic and myofibroblastic tumors.
Histologically they resemble very low-grade fibrosarcomas, but they are very locally aggressive and tend to recur even after complete resection. The condition is "characterized by a variable and often unpredictable clinical course." There is a tendency for recurrence in the setting of prior surgery; in one study, two-thirds of patients with desmoid tumors had a history of prior abdominal surgery. The condition can be chronic and may be debilitating.