Aggressive fibromatosis

Desmoid tumour can occur in any part of the body: extra-abdominally (neck, shoulders, upper limbs, gluteal region), abdominally (originating from muscle fascia or the abdominal/chest wall), and more rarely intra-abdominally in the mesentery or retroperitoneum. Depending on the location of the tumour, symptoms may include pain, fever and functional impairment or loss of function of the organ involved. Desmoid tumour results from the proliferation of well-differentiated myofibroblasts. The exact aetiopathogenetic mechanism is still unknown, but they seem to have a multi-factorial origin with hormonal and genetic factors being involved. Somatic mutations in the CTNNB1 gene (3q21) encoding beta-catenin have been found in about 85% of sporadic cases.

SNOMEDCT_US