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.

Early experience: high-intensity focused ultrasound treatment for intra-abdominal aggressive fibromatosis of failure in surgery

“…2,3,9,10 Meanwhile, many lesions might be unresectable; usually, such a situation most commonly occurs in patients with a largesized tumour and a complicated anatomic relationship inside the abdomen. 1,11,12 This situation is very difficult to solve. The evolving role of alternative methods of local control is currently being investigated.…”

“…1 Complete surgical resection is the traditional treatment for aggressive fibromatosis; however, local recurrence rates have been reported to be as high as 33%. 2,3,9,10 Meanwhile, many lesions might be unresectable; usually, such a situation most commonly occurs in patients with a largesized tumour and a complicated anatomic relationship inside the abdomen.…”

“…Clinically, there are usually no symptoms, if the tumours in these locations are not excessively large or cause compression of adjacent organs; however, these tumours can become very large. 1 Complete surgical resection is the basic treatment method for intra-abdominal aggressive fibromatosis; however, it is difficult to be resected completely because of the large size of the tumour and complicated anatomic relationship inside the abdomen, making it extremely easy to relapse. 2,3 Therefore, the current therapies are unsatisfactory, and more effective treatments need to be developed.…”

Desmoid-type fibromatosis

“…16e18 The histological differential diagnosis is wide, and encompasses an extensive range of spindle cell lesions ranging from scarring to abdominal gastrointestinal stromal tumour and liposarcoma with "low-grade" dedifferentiation; however, a confident diagnosis may be made by virtue that most neoplasms resembling fibromatosis have specific histological diagnostic features and lack nuclear b-catenin immunoreactivity. 14 …”

Clinical management of aggressive fibromatosis/desmoid tumour

“…AF is more common among women; it can occur at any age, although it is most commonly observed in young patients (median age 30 years old), and at different sites [3,4]. The natural course in children and adult is similar [5,6]. AF is characterised by a natural history that is highly unpredictable and differs from that of common malignancies.…”