Aggressive fibromatosis

Desmoid-type fibromatosis.gross pathology

DesmoidTumorCTMarked

SkinTumors-P9250815

Aggressive fibromatosis is a condition characterized by the non-cancerous growth of fibrous tissue, which can occur in any part of the body but most commonly arises in the abdomen, shoulders, arms, and legs. Despite its non-malignant nature, aggressive fibromatosis behaves similarly to a low-grade cancer, as it can invade surrounding tissues and is prone to recurrence after removal. This condition is also known as "desmoid tumors" and falls within a broader category of soft tissue tumors.

Etiology and Pathogenesis

The exact cause of aggressive fibromatosis is not fully understood, but it is believed to involve a combination of genetic and environmental factors. Mutations in the CTNNB1 gene, which encodes for β-catenin, a protein involved in the regulation of cell adhesion and gene transcription, have been identified in many cases. Additionally, hormonal influences, particularly estrogen, and physical trauma have been implicated in the development of these tumors.

Clinical Presentation

Patients with aggressive fibromatosis may present with a painless, firm mass that has been growing over time. Depending on the tumor's location, it can cause symptoms by compressing adjacent structures. For example, abdominal tumors may lead to bowel obstruction or pain, while those in the limbs can impair movement and function.

Diagnosis

The diagnosis of aggressive fibromatosis is primarily based on imaging studies such as MRI (Magnetic Resonance Imaging) and histopathological examination of a biopsy specimen. MRI is particularly useful for determining the extent of the disease and its relationship to surrounding tissues.

Treatment

Treatment options for aggressive fibromatosis vary depending on the size, location, and aggressiveness of the tumor, as well as the patient's symptoms and overall health. Strategies may include surgical resection, radiation therapy, and pharmacological treatments such as non-steroidal anti-inflammatory drugs (NSAIDs), hormonal therapy (e.g., tamoxifen), and chemotherapy. In some cases, a watchful waiting approach is adopted, especially for asymptomatic tumors.

Prognosis

The prognosis for individuals with aggressive fibromatosis is generally good, as the condition is benign and does not metastasize. However, the risk of local recurrence after treatment is significant, necessitating close follow-up. The impact on quality of life and function can vary widely, depending on the tumor's location and size.

Epidemiology

Aggressive fibromatosis is a rare disorder, with a variable incidence reported in the literature. It can occur at any age but is most commonly diagnosed in young adults. There is a slight female predominance, which may be related to the proposed hormonal influences in its pathogenesis.