Table 1 Adapted from [21]
From: Multimodality imaging features of desmoid tumors: a head-to-toe spectrum
Epidemiology | • ~ 0.03% of all neoplasms; < 3% of all soft tissue tumors. • 30% of familial adenomatous polyposis (FAP) patients have desmoid-type fibromatosis (also called Gardner syndrome); 7.5–16% of patients with fibromatosis have FAP. • Mean age: 36–42 years. • Female predominance from puberty to age 40; younger and older patients have M:F = ~ 1:1. • Male predominance in FAP of 3:1. |
Sites | • 37–50% occur in the abdominal region. • Shoulder girdle, chest wall, and inguinal regions are the most prevalent extra-abdominal sites. o In FAP: majority (51–67%) are intra-abdominal or in the abdominal wall. o Sporadic: extra-abdominal are more common. • Abdominal wall is the prevalent site in premenopausal and pregnant women. |
Pathophysiology/etiology | • CTNNB1 and APC gene mutations (up to 89% of cases). • High estrogen states and positive trauma history can lead to activation of the Wnt/β-catenin pathway. |
Prognostic factors | • Local recurrence in 20–30%. • Margin status critical for local recurrence in primary tumors but not significant in recurrent presentations. • CTNNB1 S45F mutation associated with significantly increased risk of recurrence. |