Desmoid tumors are rare, noncancerous growths that arise from fibrous connective tissue that can cause pain and functional problems.
What are desmoid tumors?
Desmoid tumors are an aggressive type of fibromatosis. Fibromatoses are tumors that occur in the body’s connective tissue. Connective tissue provides support and structure to your body, including muscles, tendons, ligaments, and other tissues.
Most importantly, desmoid tumors are noncancerous and they do not metastasize (spread to distant sites) like cancerous tumors. However, they can be locally aggressive, meaning they can invade and grow into surrounding tissues, causing pain, functional problems, and other complications.
Desmoid tumors can occur nearly anywhere in the body, but they are most commonly found in the:
- Abdomen: Particularly the abdominal wall (in or near the abdominal muscles) and within the abdomen (intra-abdominal), involving the mesentery, bowels, or other abdominal organs.
- Extremities: Arms and legs, within muscles and surrounding tissues.
- Shoulder girdle: Desmoid tumors in the shoulder girdle typically arise in the muscles, tendons, ligaments, and other soft tissues surrounding the shoulder joint and scapula (shoulder blade).
Less frequently, they may be found in the chest wall, head, or neck. While these tumors are not cancerous, they are still often treated by cancer doctors because of how they grow and spread into nearby areas of the body. AHN’s Sarcoma Center of Excellence has the highly trained and skilled care providers to help you navigate a desmoid tumor diagnosis and treatment plan.
AHN Sarcoma Center of Excellence
The AHN Sarcoma Center of Excellence is made up of a team of multiple health care experts walking you through every step of your diagnosis and treatment. AHN health care providers in the Sarcoma Center of Excellence see you as the individual you are who requires unique treatment options and care.
Diagnosis and treatment will usually begin with an appointment with our orthopaedic oncology team. The team works closely with providers amongst different medical specialties. This is known as multidisciplinary, and it enables your health care providers to communicate your needs quickly and effectively across teams. Your care team may include:
- Surgeons
- Medical oncologists
- Radiation oncologists
- Pathologists
- Physical therapists
- Occupational therapists
- Plastic surgeons
- Nurse navigators
At AHN, we strive to make your treatment course as seamless as possible. We will take care of appointment scheduling, imaging planning, and other aspects of care coordination for our patients. That way, patients at AHN can devote their time and energy to healing and recovery.
Desmoid tumor symptoms and signs
Desmoid tumors don't spread to distant organs, but they can be locally aggressive, meaning they can invade surrounding connective tissues and cause significant problems. Symptoms and signs vary greatly depending on the tumor's location, size, and growth rate.
Common symptoms of desmoid tumors that can occur regardless of location include:
- Pain: This is a very common symptom. The pain can range from mild aching to severe, debilitating pain. It can be constant or intermittent and may be aggravated by movement or pressure.
- Swelling or lump: A noticeable mass or swelling is often the first indication of a desmoid tumor. The lump may be hard or rubbery.
- Tenderness: The area around the tumor may be tender to the touch.
- Limited range of motion: If the tumor is near a joint, it can restrict movement.
- Weakness: Depending on the location and size, the tumor can compress nerves or muscles, leading to weakness.
- Fatigue: Chronic pain and inflammation can contribute to fatigue.
Abdominal desmoid tumors
The most common desmoid tumors, in the abdomen area, have symptoms that may include:
- Abdominal pain: This pain can feel vague or sharp, widespread or localized in the stomach.
- Abdominal distension or bloating: Due to the size of the tumor or its impact on organs, patients may experience bloating or distension, which is when the stomach swells with gas or fluid.
- Constipation or diarrhea: If the tumor is pressing on the intestines, you may experience constipation or diarrhea depending on the tumor location.
- Nausea and vomiting: When the tumor obstructs the digestive tract, nausea and vomiting can occur.
- Weight loss: The tumor may interfere with digestion or cause discomfort or pain that reduces your appetite.
- Palpable mass: Sometimes, a lump in the abdomen can be felt externally.
- Bleeding: A tumor near the intestines might cause internal bleeding, but this is very rare.
Chest wall desmoid tumors
Symptoms of desmoid tumors located in your chest may include:
- Chest pain: This is often aggravated by breathing or movement.
- Shortness of breath: If the tumor compresses the lungs, you could experience shortness of breath.
- Cough: You could experience a persistent cough if the tumor irritates the airways.
- Palpable mass: Depending on the location of the tumor, a lump on the chest wall may be felt.
Arm and leg desmoid tumors
Symptoms of desmoid tumors located in your arms or legs may include:
- Pain: Localized pain in the arm or leg.
- Swelling: Noticeable swelling in the affected limb.
- Limited range of motion: If the tumor is near a joint.
- Weakness: In the affected limb.
- Numbness or tingling: If the tumor compresses nerves.
Head and neck desmoid tumors
Desmoid tumors are rarer in the head and neck, but common symptoms may include:
- Headaches: If the tumor is near the brain, you may experience headaches.
- Facial pain: If the tumor is near the facial nerves this can cause tenderness or pain in the face.
- Vision problems: Some patients experience vision problems due to the tumor affecting the optic nerve.
- Difficulty swallowing or speaking: Desmoid tumors can grow in the mouth, affecting the throat or tongue, which can make it difficult to swallow or speak normally.
- Neck stiffness: Sometimes, the tumor grows in the neck muscles causing stiffness or pain.
Causes and risk factors
The exact cause of desmoid tumors isn’t known. Researchers have determined that the tumors occur when the cells in connective tissue change and cause genetic mutations. But the exact reason why the cells changed has not been found. Estrogen may play a role, as desmoid tumors are more frequent in women, especially during or after pregnancy. There are certain risk factors that have been known to increase the chance of developing desmoid tumors. Those risk factors include:
- Familial Adenomatous Polyposis (FAP): Desmoid tumors are more common in people with FAP, an inherited condition that causes numerous polyps to develop in the colon. FAP is caused by mutations in the adenomatous polyposis coli (APC) gene, which is a key tumor suppressor gene.
- Family history: While most desmoid tumors aren't hereditary, having a family history of desmoid tumors may slightly increase the risk.
- Gender: Those assigned female at birth are more likely to develop desmoid tumors than those assigned male.
- Age: Desmoid tumors can occur at any age, but they are most commonly diagnosed in people between the ages of 15 and 60.
- Pregnancy: Pregnancy and childbirth seem to be associated with increased risk, possibly due to hormonal changes.
- Prior surgery or trauma: In some cases, desmoid tumors have been known to arise at the site of a previous surgery or trauma.
It’s important to know that having a risk factor does not mean you will develop a desmoid tumor. Regular preventive care and communication with your doctor about your health concerns are the best ways to determine your specific needs.
Desmoid tumor screening and diagnosis
Routine screening for desmoid tumors is not recommended for the general population due to their rarity and lack of effective early detection methods. Most cases are discovered because a patient is experiencing symptoms, or a tumor is found during another medical test. If a desmoid tumor is suspected (due to symptoms or an incidental finding on imaging), the diagnostic process typically involves the multiple approaches, depending on the location and severity of the tumor.
Physical examination
The doctor will perform a physical exam to assess the area of concern, check for any lumps or swelling; and evaluate your symptoms. They may ask about your medical history, family history, and any potential risk factors to help get a full picture of your overall health.
Imaging
Imaging studies help to visualize the tumor; determine its size, location, and extent; assess its relationship to surrounding structures, and monitor its response to treatment or detect recurrence. Types of imaging studies include:
- MRI (Magnetic Resonance Imaging): The most sensitive imaging option for visualizing soft tissue tumors like desmoids. An MRI can help determine the tumor's size, location, extent, and relationship to surrounding structures, so your doctor can create a personalized treatment plan.
- CT scan (Computed Tomography): A CT scan can be used, particularly if the desmoid tumor may be affecting the surrounding bones.
- Ultrasound: While an ultrasound may be used as an initial imaging study, especially for superficial lesions, it is not as sensitive as MRI or CT for deep-seated tumors.
Biopsy
This is the most crucial step for confirming the diagnosis. A biopsy involves removing a small sample of tissue from the tumor for examination under a microscope by a pathologist, a doctor who looks at and examines body tissue for sings of disease or infection. Your specialist may want to perform a biopsy. They many use one of the following methods:
- Core needle biopsy: The preferred method for obtaining a tissue sample, as it is less invasive than surgical biopsy. It involves using a hollow needle to extract a core of tissue from the tumor, often guided by ultrasound or CT imaging.
- Incisional or excisional biopsy: If a core needle biopsy is not possible or doesn't provide enough tissue, a surgical biopsy may be performed. An incisional biopsy involves removing a small portion of the tumor, while an excisional biopsy involves removing the entire tumor (if it's small and accessible). An excisional biopsy is not usually preferred if the lesion is later found to be a desmoid.
- Pathology review: The tissue sample is examined by a pathologist, who will assess the cells' appearance, growth pattern, and other features to confirm the diagnosis of a desmoid tumor and rule out other possible conditions (e.g., other types of soft tissue tumors).
- Immunohistochemistry: Special stains are often used on the biopsy sample to help confirm the diagnosis and differentiate desmoid tumors from other soft tissue tumors. These stains can detect specific proteins or markers on the tumor cells.
Genetic testing
In some cases, genetic testing may be performed on the biopsy sample to look for mutations in the CTNNB1 gene, which is commonly associated with desmoid tumors. This can help confirm the diagnosis and provide information about the tumor's behavior. In patients with Familial Adenomatous Polyposis (FAP), an inherited condition, testing for the APC gene is important.
Types and stages of desmoid tumor
If you have been diagnosed with a desmoid tumor, it is helpful to understand the types and stages of the tumor. Your AHN care team is available to answer any and all questions you may have, but having some background information about the tumor can help you feel confident in your discussions with your care team. Desmoid tumors are generally classified by their location in your body. These classifications include:
- Intra-abdominal desmoid tumors: Often found inside the abdominal cavity, these tumors are more commonly associated with Familial Adenomatous Polyposis (FAP).
- Extra-abdominal desmoid tumors: These tumors develop outside the abdominal cavity, typically in the limbs (arms and legs), shoulder, chest wall, neck, or back. This is the most common location for irregular (non-FAP-related) desmoid tumors.
- Abdominal wall desmoid tumors: These tumors occur in the muscles and tissues of the abdominal wall. They may be associated with pregnancy or previous surgery.
The primary difference in the types of desmoid tumor types is based on where they are in the body. The location can affect symptoms and treatment approach.
Staging
Desmoid tumors are not staged like cancerous tumors. Cancer staging describes how far the cancer has spread. Desmoid tumors do not typically metastasize (spread to distant sites). Instead, doctors assess the severity and aggressiveness of desmoid tumors based on several factors:
- Size: The size of the tumor is a key factor. Larger tumors may be more difficult to treat and can cause more significant symptoms.
- Location: As mentioned above, the location is crucial. Tumors located near vital structures (nerves, blood vessels, organs) are considered more serious due to potential complications and treatment challenges.
- Growth rate: How quickly the tumor is growing is an important indicator of its aggressiveness. Rapidly growing tumors may require more aggressive treatment.
- Symptoms: The severity of symptoms (pain, functional impairment, etc.) contributes to the overall assessment.
- Recurrence: If a tumor has recurred after previous treatment, it is generally considered more aggressive and challenging to manage.
- Functional impact: Assess the impact the tumor has on the person's ability to function in daily life. This helps determine the need for treatment.
- Radiographic features: Imaging studies (MRI, CT scans) help assess the tumor's size, location, and involvement of surrounding tissues.
Desmoid tumor treatment
The treatment of desmoid tumors is complex and highly individualized. There's no one-size-fits-all approach, and the best strategy depends on factors like tumor location, size, growth rate, symptoms, the patient's overall health, and previous treatments. Because these tumors are rare and can behave unpredictably, treatment is often best managed by a multidisciplinary team of specialists with experience in desmoid tumors. If you are experiencing a desmoid tumor diagnosis, the AHN Sarcoma Center of Excellence is here to help you find the personalized treatment for you. The team is not only experienced and highly skilled in treating desmoid tumors, they are also compassionate, caring providers who are focused on helping you feel better.
Nirogacestat
Nirogacestat is an oral medicine that targets the way desmoid tumor cells grow and is effective in reducing the size or further growth of these tumors. It's also the first medication specifically designed and FDA-approved for this purpose. Your AHN care team will determine if this treatment is an option for you.
Active surveillance
Watchful waiting is often the first approach for asymptomatic or slowly growing desmoid tumors. The tumor is monitored regularly with imaging studies (MRI or CT scans) every few months to assess for any changes in size or growth rate. The goal of this approach is to avoid unnecessary treatment and its potential side effects if the tumor is not causing significant problems. Active surveillance requires a strong patient-physician relationship and open communication. It's crucial to be vigilant and report any new or worsening symptoms promptly.
Surgery
Surgery is often considered when the tumor causes significant symptoms, grows rapidly, or poses a threat to vital structures. The goal is to achieve a complete resection with negative margins (meaning no tumor cells are left at the edge of the removed tissue).
- Wide local excision: This is the most common surgical approach. It involves removing the entire tumor along with a margin of healthy tissue surrounding it. The goal is to achieve negative margins, which is determined by examining the tissue under a microscope.
- Marginal excision: This is rarely recommended as a primary treatment involves removing the tumor with a very narrow margin of healthy tissue or even directly along the tumor's edge. This might be considered when the tumor is intimately involved with vital structures, and a wide excision would cause unacceptable morbidity or functional loss.
- Debulking surgery (cytoreduction): This involves removing as much of the tumor as possible, but without achieving complete resection or negative margins. Also known as cytoreductive surgery, it can be used when the tumor is too large or involves too many critical structures to allow for complete removal without causing unacceptable morbidity or functional loss.
- Excision with reconstruction: This involves removing the tumor along with surrounding tissues, followed by reconstructive surgery to restore function and appearance. This approach is used when the tumor removal results in a significant defect or compromises important structures.
- Reconstructive techniques:
- Skin grafts: Used to cover skin defects.
- Local flaps: Using nearby tissue to cover the defect.
- Distant flaps: Transferring tissue from a distant part of the body (e.g., muscle flap from the back or thigh) to reconstruct the area.
- Bone grafts: Used to reconstruct bone defects. This is common for extremity tumors, chest wall tumors, and head and neck tumors.
- Reconstructive techniques:
- Amputation: An extremely rare approach to desmoid tumors involves removing a limb. It is considered only as a last resort when the tumor is extensive, involves major blood vessels or nerves, and is causing severe pain or functional impairment that cannot be managed by other means.
Radiation therapy
Radiation therapy is often used when surgery is not possible (due to the tumor's location or involvement of vital structures), or to control local recurrence after surgery. It can also be used as a primary treatment in certain situations. High-energy radiation beams are used to damage the DNA of tumor cells, preventing them from growing and dividing. Radiation therapy can cause side effects, such as skin irritation, fatigue, and damage to nearby tissues. The side effects depend on the location and dose of radiation. Types include:
- External beam radiation therapy (EBRT): The radiation is delivered from a machine outside the body.
- Brachytherapy (internal radiation): Radioactive sources are placed directly into or near the tumor.
Medications
Systemic therapies are used when surgery and/or radiation are not feasible or have failed, or when the tumor is rapidly growing or causing significant symptoms. These therapies are also sometimes used in combination with surgery or radiation. Types of medications include:
- Hormonal therapy:
- Tamoxifen: An anti-estrogen medication that can help slow tumor growth in some patients.
- Toremifene: Similar to tamoxifen.
- Nonsteroidal anti-inflammatory drugs (NSAIDs):
- Sulindac: Can help reduce inflammation and slow tumor growth in some patients.
- Chemotherapy:
- Doxorubicin: A common chemotherapy drug used to treat desmoid tumors.
- Vinblastine/Vinorelbine: Other chemotherapy drugs that can be effective.
- Tyrosine Kinase Inhibitors (TKIs):
- Sorafenib: An oral medication that targets specific proteins involved in cell growth and survival. It has been shown to be effective in some patients with desmoid tumors.
- Pazopanib: Another TKI that may be used.
Desmoid tumor FAQs
If you have been diagnosed with a desmoid tumor or have some of the risk factors that could lead to developing a tumor, you likely have questions and maybe a few concerns. AHN is here to help. Your care team is available to talk with you about your diagnosis, risk factors, and any other questions you may have. If you need a place to start, we’ve included some frequently asked questions about this condition to help you feel confident in your discussions with your provider.
What is the life expectancy of a desmoid tumor?
Life expectancy is generally not directly affected by the presence of a desmoid tumor itself. Desmoid tumors are not cancerous and do not typically spread to distant organs. However, life expectancy can be affected if the tumor is in a location that causes severe complications or significantly impacts the function of vital organs. The focus is on managing the tumor and its symptoms to maintain quality of life. Many people with desmoid tumors live a normal lifespan.
Can a desmoid tumor turn into cancer?
No, a desmoid tumor is not cancer and will not turn into cancer. It is a benign (noncancerous) growth, meaning it does not metastasize (spread to other parts of the body). However, it can be locally aggressive, infiltrating surrounding tissues, and causing significant problems due to its size and location.
What is the best treatment for a desmoid tumor?
There is no single "best" treatment for desmoid tumors, as the approach is highly individualized. Options include:
- Active surveillance ("Watch and Wait"): Many desmoid tumors grow slowly or even stabilize on their own. If the tumor is not causing significant symptoms, a doctor might recommend closely monitoring it with regular imaging.
- Surgery: Surgical removal may be an option if the tumor is in a location where it can be completely removed without causing significant functional problems.
- Radiation therapy: Radiation may be used to shrink the tumor or prevent further growth, especially when surgery is not possible or complete.
- Systemic therapies: These include medications like nonsteroidal anti-inflammatory drugs (NSAIDs), anti-estrogens (e.g., tamoxifen), chemotherapy, or targeted therapies (e.g., sorafenib). These are used to try to shrink or control the growth of the tumor.
- Other therapies: Cryoablation, radiofrequency ablation and other cutting-edge treatments are also being used.
The choice of treatment depends on the tumor's size, location, growth rate, symptoms, and the individual's overall health.
Do desmoid tumors ever go away?
Yes, in some cases, desmoid tumors can spontaneously regress (shrink or disappear on their own) without any treatment. This is why active surveillance is sometimes recommended. However, spontaneous regression is not predictable, and the tumor may remain stable or continue to grow.
Contact us
To make an appointment you can:
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Please bring all relevant imaging on CD or through PowerShare with correlating reports for review by our team to your initial appointment.