Aggressive fibromatosis

Abstract

Aggressive (deep or desmoid-type) fibromatoses are locally infiltrative collagen-forming tumours with potential for recurrence but not metastasis. They exert their clinical effects primarily in relation to location and have variable biological behaviour. In sporadic cases there are somatic mutations in the β-catenin (CTNNB1) gene on 3p21, resulting in immunohistochemically demonstrable overexpression in nuclei. Fibromatosis in patients with familial adenomatous polyposis (FAP) harbours inactivating germline mutations in the desmoid region of the adenomatous polyposis coli (APC) gene on 5q21-q22. The differential diagnosis includes other myofibroblastic lesions, perineurioma, low grade fibromyxoid sarcoma and, in the abdomen, gastrointestinal stromal tumour and liposarcoma with 'low-grade' dedifferentiation. The primary management is surgical, though some desmoids cease to grow and can be watched. Other therapies have a role in stabilising growth or shrinking tumours. Although no single therapy is effective in all cases, available modalities including irradiation, hormonal therapy, chemotherapy, and receptor tyrosine kinase inhibition can be of value in appropriate clinicopathological subgroups.