Biology and Treatment of Aggressive Fibromatosis or Desmoid Tumor

Abstract

Aggressive fibromatosis, also known as desmoid-type fibromatosis (DTF) or desmoid tumor, is an uncommon locally invasive tumor. Because of its low incidence and variable behavior, DTF is often first seen by physicians who are not familiar with it, and recent advances in understanding this disease have led to changes in treatment approaches. The Wnt (β-catenin) pathway appears to play a key role in DTF pathogenesis, and recent studies of DTF biology suggest a possible model of DTF pathogenesis. Histologically, DTF shows a poorly circumscribed proliferation of myofibroblast-like cells with variable collagen deposition, similar to the proliferative phase of wound healing, and DTF has been associated with trauma and pregnancy. Desmoid-type fibromatosis may be a useful model of the tumor stroma in carcinomas as well as other fibrosing diseases such as progressive pulmonary fibrosis. The clinical course of DTF can vary greatly among patients, complicating the determination of the optimal treatment approach. Treatment options include surgery, nonsteroidal anti-inflammatory drugs with or without hormonal manipulation, chemotherapy, radiation therapy, and other forms of local therapy. Many treatments have been used, but these are not without toxicities. Because of the variable nature of the disease and the potential morbidity of treatment, some cases of DTF may do better without treatment; simple observation is often the best initial treatment. This review used a PubMed search from January 1, 1980, through October 31, 2016, using the terms fibromatosis and desmoid and discusses DTF disease characteristics, pathophysiology, and treatment options as well as examines several cases illustrating key points in the biology and treatment of this heterogeneous disease.

High prevalence of persistent emotional distress in desmoid tumor

“…12,13 Rapidly progressive DT can locally invade crucial structures and organs, leading to significant morbidity and may be fatal. 12,13 Rapidly progressive DT can locally invade crucial structures and organs, leading to significant morbidity and may be fatal.…”

Dramatic progression of a chest wall desmoid‐like fibromatosis

“…Desmoid‐type fibromatosis is a locally invasive tumour with no metastatic potentiality, characterized by monoclonal proliferation of myofibroblasts occurring in deep tendon membrane tissues . The tumour seems to originate from totipotent mesenchymal cells and the WNT pathway (mutation in the β‐catenin gene and adenomatous polyposis coli gene) is strongly implicated in its pathogenesis . Although 50% of desmoid‐type fibromatosis patients have an indolent course, the natural history of the disease is extremely variable, this complicating the identification of the best strategy of care .…”

“…1,2 The tumour seems to originate from totipotent mesenchymal cells and the WNT pathway (mutation in the β-catenin gene and adenomatous polyposis coli gene) is strongly implicated in its pathogenesis. 1,3 Although 50% of desmoid-type fibromatosis patients have an indolent course, the natural history of the disease is extremely variable, this complicating the identification of the best strategy of care. 3 Treatment options may include surgery, non-steroidal anti-inflammatory drugs, hormone manipulation, chemotherapy, radiation therapy and other forms of local therapy.…”

“…1,3 Although 50% of desmoid-type fibromatosis patients have an indolent course, the natural history of the disease is extremely variable, this complicating the identification of the best strategy of care. 3 Treatment options may include surgery, non-steroidal anti-inflammatory drugs, hormone manipulation, chemotherapy, radiation therapy and other forms of local therapy. 1,3 Patients with stable disease for more than 1 year do not seem to need active treatment but only clinical surveillance.…”

“…3 Treatment options may include surgery, non-steroidal anti-inflammatory drugs, hormone manipulation, chemotherapy, radiation therapy and other forms of local therapy. 1,3 Patients with stable disease for more than 1 year do not seem to need active treatment but only clinical surveillance. 3 Even after surgery, the risk of local recurrences is estimated from 25% to 60% at 5 years.…”