UNDERSTANDING DESMOID TUMORS: CAUSES AND TREATMENTS

Desmoid tumors, also known as desmoid fibromatosis or aggressive fibromatosis, are rare, non-cancerous tumors that can occur in any part of the body. These tumors are characterized by their aggressive growth and tendency to invade surrounding tissues, making them difficult to treat.

This article places a spotlight on desmoid tumors, covering their causes, types, symptoms, diagnosis, and treatment options, as well as the latest advancements in treatment and prognosis for those living with this condition.

What are Desmoid Tumors?

Desmoid tumors, also known as deep fibromatoses, are rare tumors that develop in the body's connective tissue. Connective tissue offers support and structure to the entire body and includes tendons, ligaments, and cartilage.^[1]

They are classified as benign soft tissue sarcomas, non-cancerous growths that develop in the soft (connective) tissues of the body. However, due to their location and aggressive growth, they can still cause significant health issues.

Due to the prevalence of connective tissue throughout the body, desmoid tumors can materialize anywhere. The abdomen is one of the most common sites. They also frequently appear in the shoulders, upper arms, and thighs.

They are estimated to affect between 2 and 4 per million people globally, with a higher prevalence among women. The average age of onset is 30-40.

Other names include^[2]:

• Aggressive fibromatosis
• Deep musculoaponeurotic fibromatosis
• (Formerly: fibrosarcoma grade I of the desmoid type)

Is Desmoid Tumor Cancer?

Desmoid tumors are not cancerous, as they do not spread to other parts of the body like cancer. Nonetheless, they can still provoke substantial damage and complications due to their ability to invade and damage surrounding tissues and organs. This feature also makes them difficult to treat.

Desmoid Tumors vs. Keloids

Desmoid tumors are often confused with keloids, which are non-cancerous growths in the connective tissue.

Keloids are raised overgrowths of scar tissue at the site of a skin injury^[3]. They can result from severe acne, burns, chickenpox, ear piercing, scratches, or surgical incisions. Keloids can be itchy, painful, and tender to the touch. They extend beyond the original injury and do not regress over time. They are typically smaller and do not invade surrounding tissues like desmoid tumors.

The Different Types and Causes of Desmoid Tumors

The exact cause of desmoid tumors is still unknown.

Research suggests that they may be caused by mutations in the beta-catenin (β-catenin) gene, also known as CTNNB1^[4]. This gene regulates cell growth and division. Mutations in this gene can raise the risk of acquiring a desmoid tumor. Mutation 45F is one of the most aggressive. This type maintains an average recurrence-free survival rate of 25% after 5 years.

Desmoid tumors can be either sporadic or inherited.

• Sporadic desmoid tumors occur randomly and are not inherited from a family member.
• Inherited desmoid tumors are caused by a genetic mutation that is passed down from a parent. Desmoid tumors are familial in 5% to 10% of instances.

One inherited condition that is associated with desmoid tumors is Familial Adenomatous Polyposis (FAP). This condition is indicative of the growth of multiple polyps in the rectum and colon, which raises the possibility of colon cancer. People with FAP are more prone to developing desmoid tumors due to having mutations in the APC gene, which is responsible for suppressing tumor growth.

Desmoid tumors can occur in any part of the body, but they are most commonly found in the abdominal wall, intra-abdominal area, and extra-abdominal areas.^[5]

1. Abdominal wall desmoid tumors grow in the muscles and connective tissues in the abdominal wall.
2. Intra-abdominal desmoid tumors occur in the abdominal cavity, often near the intestines or other organs.
3. Extra-abdominal desmoid tumors can occur in any part of the body outside of the abdomen, such as the arms, legs, chest, or head and neck.

Symptoms of Desmoid Tumors

The symptoms of desmoid tumors vary in accordance with the location and size of the tumor. Some common symptoms include:

• A visible lump or mass in the affected area
• Abdominal pain or discomfort
• Limited mobility
• Changes in bowel habits
• Abdominal pain or bloating
• Nausea and vomiting
• Difficulty breathing or swallowing (in rare cases)

Risk Factors

Although the exact cause of desmoid tumors is unknown, a few risk factors may increase the likelihood of developing this condition. These include:

• Desmoid tumors are more common in women than men
• Having a family history of desmoid tumors or FAP
• Previous history of trauma or surgery in the affected area
• High estrogen levels^[6]
• Certain genetic conditions, such as Gardner syndrome or Familial Adenomatous Polyposis (FAP)

Diagnosis of Desmoid Tumors

It might be difficult to diagnose desmoid tumors, as they can mimic other conditions and may not cause symptoms until they have grown significantly. Your doctor can use a mixture of imaging tests, such as MRI, CT scan, or ultrasound, to locate and assess the size and location of the tumor.^[7]

A biopsy may also help to confirm the diagnosis and rule out other conditions^[8]. During a biopsy, a small tissue sample from the tumor is examined under a microscope and can confirm the presence of abnormal cells.

Treatment Options for Desmoid Tumors

Treatment for desmoid tumors depends on the location, size, aggressiveness, and the patient's overall health. Some standard treatment options include:

Active Monitoring

In some cases, desmoid tumors may not cause symptoms or grow significantly, and your doctor may recommend active monitoring. This requires regular imaging tests to monitor the tumor's growth and symptoms so that swift treatment can intervene if the tumor starts to cause problems.

Surgery

Surgery is the best possible treatment option for most desmoid tumors, especially if the tumor is causing symptoms or is in a critical area. The goal of surgery is to extract the entire tumor while preserving surrounding tissues and organs. However, due to the aggressive nature of desmoid tumors, surgery may not always be possible or practical. The recurrence rate after surgery is as high as 30%.

Radiation Therapy

 Radiation therapy can complement surgery by shrinking the tumor or preventing it from growing back.

Cryoablation Therapy

Cryoablation involves inserting a thin needle-like probe directly into the tumor and using freezing temperatures to destroy the tumor cells.^[9]

Advantages of this novel technique for treating desmoid tumors include:

• Minimally invasive compared to surgery
• It can be effective for tumors in locations that are difficult to treat surgically
• Lower risk of complications than traditional surgery
• Lower toxicity compared to other therapies^[10]

It may not be suitable for large or deeply located tumors. Research on long-term effectiveness requires clarification and is ongoing.

Medications

Medications may treat desmoid tumors, either alone or in combination with other treatments.^[11]

Some common medications used for desmoid tumors include non-steroidal anti-inflammatory drugs (NSAIDs), chemotherapy drugs, and hormone therapy.

Chemotherapy drugs with a high success rate include:

• Sorafenib is an oral chemotherapy used as a molecular-targeted therapy. In clinical trials, tumor shrinkage was observed in 33% of patients, and tumor growth was prevented by up to 70%. It is now a first-line treatment for patients who cannot undergo surgery.
• Pazopanib, another multi-kinase inhibitor (important cell enzymes), has shown results similar to sorafenib.
• Ogivri (nirogacestat) is the first FDA-approved therapy for the treatment of desmoid tumors, a rare type of non-cancerous tumor. It works by inhibiting the Notch signaling pathway, which governs the growth and survival of desmoid tumor cells. Positive results were seen in 41% of treated patients.^[12]

Intravenous chemotherapy with anthracyclines is another option for tumors that are resistant to surgical removal. This form of therapy is more toxic than other treatments and can help those with treatment-resistant cases.

Desmoid Tumor Diet

Despite no specific diet for desmoid tumors, maintaining a healthy and balanced diet can sustain your overall health and immune function. Eating plenty of fruits, vegetables, lean proteins, and whole grains can furnish your body with the nutrients it needs to combat disease and promote healing. It may also help to lower inflammation, which may be of benefit to cancer patients.^[13]

Prognosis and Living with Desmoid Tumors

The prognosis for desmoid tumors varies depending on the location, size, and aggressiveness of the tumor, as well as the effectiveness of treatment. In some cases, desmoid tumors may go away on their own, while in others, they may continue to grow and cause complications.

The life expectancy for those living with desmoid tumors can vary greatly, and it is difficult to predict. Some people may live with desmoid tumors for many years without experiencing significant symptoms or complications, while others may need ongoing care, treatment, and symptom management.

Can Desmoid Tumors be Fatal?

While desmoid tumors are not considered cancerous, they can still cause significant damage and complications due to their location and aggressive growth. In rare cases, desmoid tumors may become life-threatening if they grow in critical areas or cause severe symptoms.

Desmoid Tumors and Pregnancy

Pregnancy can be a challenging time for those living with desmoid tumors, as hormonal changes and increased pressure on the abdomen can cause the tumor to grow or become more symptomatic. It is crucial to talk to your doctor about any queries you may have and create a treatment plan that will keep you and your child safe.

Latest Advancements in Treatment

Researchers are constantly exploring new and innovative treatments for desmoid tumors, refining their knowledge of inhibitory mechanisms. Several additional chemotherapeutics are being tested^[14] with cryoablation and other minimally invasive ablative techniques^[15].

One of the latest advancements in the treatment of desmoid tumors is the use of proton therapy. This type of radiation therapy utilizes protons instead of conventional X-ray particles to target cancer cells. Proton therapy is more precise and can deliver larger radiation doses to the tumor while diminishing potential damage to surrounding tissues and organs. This therapy has successfully treated desmoid tumors with minimal side effects.^[16]

Conclusion

Desmoid tumors are rare, non-cancerous tumors that can occur in any part of the body. While the exact cause remains unknown, research demonstrates that mutations in the beta-catenin gene may result in their growth. Treatment options for desmoid tumors include active monitoring, surgery, radiation therapy, and medications. Researchers are constantly exploring new and innovative treatments for this condition. With proper management and treatment, many people with desmoid tumors can live long and healthy lives.

To search for the best Oncology Doctors and Oncology Healthcare Providers worldwide, please use the Mya Care search engine.

To search for the best doctors and healthcare providers worldwide, please use the Mya Care search engine.