Desmoid Tumors

Overview

Desmoid tumors are noncancerous growths that occur in the connective tissue. They are also known as aggressive fibromatosis. Desmoid tumors can appear in various parts of the body, such as the abdomen, arms, and legs. Some tumors grow slowly and may not require immediate treatment, while others grow quickly and can be treated with surgery, radiation therapy, chemotherapy, or other drugs. Desmoid tumors do not spread to other areas of the body, but they can be aggressive and grow into nearby structures and organs. They are often managed by cancer doctors. Symptoms of desmoid tumors can include a mass or area of swelling, pain, and loss of function in the affected area. They are more common in younger adults in their 20s and 30s and people with a genetic syndrome that causes many colon polyps (familial adenomatous polyposis).

Understanding the disease

Symptoms

The symptoms of desmoid tumors depend on where the tumors occur. In general, the symptoms include a mass or area of swelling, pain, and loss of function in the affected area. When desmoid tumors occur in the abdomen, additional symptoms may include cramping and nausea. If you experience any persistent signs or symptoms that worry you, it's important to make an appointment with your doctor.

Risk Factors

Young adult age is a risk factor for developing desmoid tumors. These tumors are most common in people in their 20s and 30s. Additionally, individuals with a genetic syndrome called familial adenomatous polyposis (FAP) have an increased risk of desmoid tumors. FAP is caused by a gene mutation that can be inherited from parents and leads to the formation of numerous growths (polyps) in the colon. Other possible risk factors include pregnancy, as desmoid tumors can develop during or shortly after pregnancy, and recent injury or surgery. However, it's important to note that the exact cause of desmoid tumors is not yet clear.

Development

Desmoid tumors develop when a connective tissue cell undergoes changes in its DNA, causing the cell to multiply rapidly. These tumors are noncancerous, but they can be aggressive and grow into nearby structures and organs. The exact cause of these genetic changes is not clear, but factors such as young adult age, a genetic syndrome that causes many colon polyps, pregnancy, and injury may increase the risk of developing desmoid tumors.

Assessment and Diagnosis

Triage

You should see a doctor if you have any persistent signs or symptoms that worry you. These signs and symptoms may include a mass or area of swelling, pain, loss of function in the affected area, cramping and nausea (when desmoid tumors occur in the abdomen), or if the tumor continues to enlarge, feels hard or rubbery, or doesn't move when you push on it. Additionally, if you experience persistent fever, night sweats, or unexplained weight loss, you should consult with your doctor.

Diagnosis

To diagnose desmoid tumors, doctors typically follow a series of steps, which may include:

1. Physical exam: Your doctor will examine your body to better understand your signs and symptoms.
2. Imaging tests: Your doctor may recommend imaging tests, such as CT and MRI, to create pictures of the area where your symptoms are occurring. The images may give your doctor clues about your diagnosis.
3. Removing a sample of tissue for testing (biopsy): To make a definitive diagnosis, your doctor collects a sample of the tumor tissue and sends it to a lab for testing. For desmoid tumors, the sample can be collected with a needle or with surgery, depending on your particular situation. In the lab, doctors trained in analyzing body tissues (pathologists) examine the sample to determine the types of cells involved and whether the cells are likely to be aggressive. This information helps guide your treatment. Remember, it's important to consult with a qualified healthcare professional for an accurate and personalized diagnosis.

Management and Treatment

Complications

Potential complications of desmoid tumors may include:

1. Pain: Desmoid tumors can cause pain, particularly when they grow and put pressure on surrounding structures or organs.
2. Loss of function: The growth of the tumor can lead to loss of function in the affected area, such as reduced mobility or limited movement.
3. Internal bleeding: Desmoid tumors can cause internal bleeding if they are located near blood vessels or if they become ruptured.
4. Infection: As with any surgical intervention or invasive procedure, there is a risk of infection.
5. Nerve damage: Surgery or radiation therapy can cause nerve damage, leading to potential complications like numbness, weakness, or paralysis.
6. Emotional and psychological effects: The physical challenges of living with desmoid tumors can also have emotional and psychological impacts, such as anxiety, depression, or stress.
7. Recurrence: Desmoid tumors have a tendency to recur after treatment, particularly if they were not completely removed or if there is a genetic predisposition. It's essential to work closely with medical professionals to monitor and manage these potential complications, as well as to address any concerns that arise during the course of treatment and recovery.

Prevention

about preventing desmoid tumors. The exact cause of desmoid tumors is not clear, and they tend to occur sporadically, without a known family history or inherited genetic predisposition. While some risk factors have been identified, such as young adult age and certain genetic syndromes, there are no known methods to prevent the development of desmoid tumors. Early detection through regular check-ups and reporting any persistent symptoms to a doctor can help with timely diagnosis and appropriate treatment.

Treatment

Treatments for desmoid tumors depend on the tumor's size, location, and growth rate. Some slow-growing desmoid tumors may not require immediate treatment, but for rapidly growing tumors, treatment may be necessary to prevent complications. Treatment options include:

1. Surgery: Surgical removal of the tumor is an option when possible, particularly for tumors that are causing significant pain or impairing function.
2. Radiation therapy: Radiation therapy uses high-energy X-rays to target and kill cancer cells. It may be used to shrink the tumor or as a palliative treatment to relieve pain and other symptoms.
3. Chemotherapy: Chemotherapy uses drugs to kill cancer cells. It may be used to shrink the tumor or slow its growth, particularly for desmoid tumors that are growing rapidly or have spread to other areas of the body.
4. Other medications: Certain drugs, such as immunotherapy or targeted therapy, may be used to slow tumor growth or manage symptoms. These treatments are typically reserved for cases where other options have not been effective. It is important to consult with a medical professional, such as a cancer doctor, to determine the most appropriate treatment plan for a desmoid tumor based on the specific patient's situation.

Preparing for medical consultation

To prepare for an appointment for desmoid tumors, follow these steps:

1. Make an appointment with your doctor or an oncologist, if necessary.
2. Prepare a list of your symptoms, including any unrelated symptoms.
3. Gather your medical records relevant to your condition and bring them to your appointment.
4. Make a list of all medications, vitamins, or supplements you are taking, including doses.
5. Consider bringing a family member or friend to help you remember the information provided during the appointment.
6. Prepare a list of questions to ask your doctor, prioritizing the most important ones.
7. Be ready to discuss any recent life changes, major stresses, or family medical history that may be relevant. Remember that being well-prepared can help you make the most of your time with your doctor and ensure you receive the best possible care.