Desmoid Tumors

Desmoid tumors are rare, benign (non-cancerous) growths that occur in the connective tissue of the body. They are also known as aggressive fibromatoses due to their tendency to grow and infiltrate surrounding tissues.

Causes and Risk Factors

The exact cause of desmoid tumors is not well understood, but they are thought to be related to genetic mutations and abnormalities in the Wnt/β-catenin signaling pathway. Certain risk factors have been identified, including:

• Familial adenomatous polyposis (FAP), a genetic disorder that increases the risk of colon cancer
• Previous surgery or trauma to the affected area
• Genetic mutations, such as those associated with Gardner syndrome

Symptoms

The symptoms of desmoid tumors vary depending on their location and size. Common symptoms include:

• Pain or discomfort in the affected area
• Swelling or a lump in the affected area
• Limited mobility or stiffness in the affected joint or limb
• Bowel obstruction or other gastrointestinal symptoms if the tumor is located in the abdomen

Diagnosis

Desmoid tumors are typically diagnosed using a combination of imaging tests and biopsy. Imaging tests may include:

• Magnetic resonance imaging (MRI)
• Computed tomography (CT) scan
• Ultrasound
• X-ray

A biopsy involves removing a sample of tissue from the tumor and examining it under a microscope for abnormal cells.

Treatment

Treatment for desmoid tumors depends on their location, size, and symptoms. Options may include:

• Watchful waiting: monitoring the tumor with regular imaging tests to see if it grows or causes symptoms
• Surgery: removing the tumor and surrounding tissue
• Radiation therapy: using high-energy rays to kill cancer cells
• Chemotherapy: using medications to kill cancer cells
• Targeted therapy: using medications that specifically target the abnormal cells in the tumor

Prognosis

The prognosis for desmoid tumors is generally good, with most patients experiencing a high rate of survival. However, the tumors can be challenging to treat and may require multiple surgeries or other interventions. In some cases, desmoid tumors can cause significant morbidity and mortality due to their location and tendency to recur.