Desmoid-Type Fibromatosis

Abstract

<jats:p>Desmoid tumors represent a rare entity of monoclonal origin characterized by locally aggressive behavior and inability to metastasize. Most cases present in a sporadic pattern and are characterized by a mutation in the CTNNB1 gene; while 5–15% show a hereditary pattern associated with APC gene mutation, both resulting in abnormal β-catenin accumulation within the cell. The most common sites of presentation are the extremities and the thoracic wall, whereas FAP associated cases present intra-abdominally or in the abdominal wall. Histopathological diagnosis is mandatory, and evaluation is guided with imaging studies ranging from ultrasound, computed tomography or magnetic resonance. Current approaches advocate for an initial active surveillance period due to the stabilization and even regression capacity of desmoid tumors. For progressive, symptomatic, or disabling cases, systemic treatment, radiotherapy or surgery may be used. This is a narrative review of this uncommon disease; we present current knowledge about molecular pathogenesis, diagnosis and treatment.</jats:p>

A Rare Paraspinal Desmoid Tumour following Instrumented Scoliosis Correction in an Adolescent

“…The apc (adenomatous polyposis coli) gene, which regulates degradation of beta-catenin, is also implicated [ 19 ]. Familial adenomatous polyposis (FAP), the resulting syndrome of apc mutation, accounts for 10% of desmoid tumours [ 5 ]. Desmoid tumours are 1000 times more common in those with FAP [ 20 ].…”

“…Desmoids are formed from the proliferation of myofibroblasts within connective tissue, resulting in a soft-tissue mass [ 5 ]. These tumours are most commonly found in the abdominal wall, mesentery, and limbs [ 1 ].…”

Development, Validation, and Visualization of A Web-Based Nomogram for Predicting the Recurrence-Free Survival Rate of Patients With Desmoid Tumors

“…In fact, the role of postoperative adjuvant radiotherapy has been controversial in the past few decades. Different studies have come to different conclusions (28)(29)(30)(31). A meta-analysis has indicated that adjuvant radiotherapy can reduce the recurrence rate of patients with positive resection margins, but for patients with negative resection margins, adjuvant radiotherapy cannot reduce recurrence or improve the local control rate (32).…”

Long-term follow up of a patient with a recurrent desmoid tumor that was successfully treated with proton beam therapy: A case report and literature review

“…Desmoid tumors occur most often between the ages of 15 and 60, with a peak at 30 to 40 years old [1,4,5]. The tumor is benign and does not metastasize, but can invade nearby tissue aggressively and often painfully.…”