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Frequently Asked Questions (FAQs)

desmoid tumor tendril

Here are some quick answers to common questions about desmoid tumors. Remember to always consult with your healthcare provider if you have questions.

A tumor is an abnormal mass of tissue. It forms when cells grow and divide more than they should or do not die when they are supposed to.1

Desmoid tumors may develop in the soft tissues that connect, support, and surround other body parts (connective tissue). Connective tissue is found all throughout the body. That’s why desmoid tumors can grow anywhere in the body.2 Desmoid tumors are also sometimes called desmoid fibromatosis.2-6

Because desmoid tumors are so rare, a desmoid tumor diagnosis can raise more questions for patients than answers. To learn more about desmoid tumors, click here.

If your care team thinks you may have a desmoid tumor, they might recommend imaging and a biopsy.4,7,8 These tests will help them determine if you have a desmoid tumor and what your course of treatment might look like. Don’t be afraid to ask your doctor about these tests if they have not yet been recommended.

Imaging: A CT (computerized tomography) scan or MRI (magnetic resonance imaging)8 can see what is happening inside the body. These imaging tests can help doctors understand where the tumor is and what parts of the body are impacted.4,7,9

Biopsy + Beta-Catenin Staining: After imaging, a piece of the suspected tumor will need to be taken out8 (usually with a needle) and examined under a microscope with a special stain to confirm that it is a desmoid tumor.4,7.10 Overproduction of a protein called beta-catenin can be used as a confirmatory indicator to help doctors diagnose desmoid tumors.11,12

NCCN Guidelines for Patients® provides a roadmap to help patients understand their diagnosis and treatment options. According to the NCCN Guidelines for Patients, it is important that a biopsy be performed. Imaging of the primary site with a CT or MRI will be done as needed.13 Otherwise, a wrong diagnosis can lead to delayed or incorrect treatment, or unnecessary surgery. Your doctor may choose to perform additional tests as well. If you have questions about getting diagnosed, be sure to ask your care team.

It is recommended that you consult with an expert care team.4,13 It may include a medical oncologist, surgeon, radiation oncologist, pathologist, and nurses.13 Mental health professionals and other healthcare professionals may be involved in your continuing care.14

Desmoid tumors are rare—so most healthcare providers may not have experience with diagnosing or treating this type of tumor. You may benefit from consulting experts at a sarcoma center. If there is not a sarcoma center close to you, it may be possible for your local doctors to work with desmoid tumor experts to create a treatment plan for you.13
Find a sarcoma center*

SpringWorks Therapeutics, Inc. is providing this link to help patients find a sarcoma specialist by region, but SpringWorks had no role in developing this registry and inclusion in this registry does not represent an endorsement or a recommendation from SpringWorks for any center or physician.

Healthcare providers who specialize in desmoid tumors may be based at a sarcoma center. If there is not a sarcoma center close to you, it may be possible for your local doctors to work with desmoid tumor experts to create a treatment plan for you. Find a registry of sarcoma centers* on the website for Sarcoma Alliance for Research through Collaboration (SARC), a non-profit organization.

SpringWorks Therapeutics, Inc. is providing this link to help patients find a sarcoma specialist by region, but SpringWorks had no role in developing this registry and inclusion in this registry does not represent an endorsement or recommendation from SpringWorks for any center or physician.

Together with the medical oncologist, other healthcare providers may be part of your care team. Depending on your needs, each of these providers can offer their expertise to assist in your ongoing care.

Nurses – Nurses may conduct physical exams, provide chemotherapy or other medications, identify needs, coordinate care with other members of the team, and educate people living with desmoid tumors and families about the disease.14

Advanced Practice Providers – Nurse practitioners (NPs) and physician assistants (PAs) may meet with you as part of the care team. They collaborate with the different team members, including your lead medical oncologist.13

Mental Health Professionals – Some people may also find it helpful to have a Mental Health Professional (psychiatrist, psychologist, social worker, or licensed counselor) to speak with. Counseling can help you understand your feelings and reactions. And if you’re feeling worried or down, a safe place to talk is always a good thing.15,16

Pain specialist – A pain specialist is a health professional who helps to manage pain.17 Pain is one of the most common and debilitating symptoms reported by people with desmoid tumors.18 This expert may recommend medicines to help block or relieve pain. They may also recommend complementary treatments (physical therapy, acupuncture, mindfulness techniques).17

Physical Therapist – A physical therapist is a health professional who can help you regain or improve impaired physical functioning. A physical therapist uses different methods to help strengthen muscles, relieve pain, and improve overall movement.19

Genetic Counselor – Genetic counselors are health professionals who can help you understand hereditary syndromes such as FAP, as well as what this might mean for you and your family. Genetic information may be an important part of your desmoid tumor treatment planning.20

Once a desmoid tumor has been diagnosed, there are several management options for you and your healthcare provider to consider depending on the size, location, aggressiveness, and discomfort of the tumor.12 Healthcare providers who specialize in desmoid tumors may be based at a sarcoma center. If there is not a sarcoma center close to you, it may be possible for your local doctors to work with desmoid tumor experts to create a treatment plan for you.13

Results and side effects can vary from person to person. When starting a therapy or care option, it may be helpful to talk about what to expect with your care team. Your doctor can advise you on any possible side effects you may experience and potential strategies to help manage them.21,22 Current approaches to care include:

Active Surveillance: The first step for some people may be observation (“watch and wait.”) This may include regular doctor check-ups and frequent imaging tests.8 This will give doctors a chance to understand if the tumor is progressing: if you have growth or change in your tumor and/or symptoms.21,23,24

If you have symptoms, the tumor grows, and/or the tumor is in a critical location, your doctor may recommend that you begin treatment.13

Medical Therapy: Medical therapy, also known as systemic therapy, describes treatment with medicines that travel through the bloodstream and can affect cells throughout the body.25

Your care team may prescribe medical therapies to help shrink and/or stabilize the tumor and manage symptoms.4,8,13

Medical therapy is recommended by experts as a first-line active treatment option for desmoid tumors that are growing and/or symptomatic in most tumor locations.8,13,‡

NCCN Guidelines for Patients recommend the following medical therapy options:8,13

Type of drug

How it is given

Gamma secretase inhibitor (GSI)

Pill

Tyrosine kinase inhibitor (TKIs)

Pill

Chemotherapy

Infusion

Nonsteroidal anti-inflammatory drugs (NSAIDs, for pain)

Pill

The NCCN Guidelines for Patients also recommend ablation and radiation therapy as treatment options for certain patients. Treatment choice will depend on the location of the tumor.13

Surgery: Guidelines from 2 groups of desmoid tumor experts§ do not recommend surgery as the first option for treating most desmoid tumors (except in certain situations).4,8

A team of experts should agree on whether surgery is appropriate. They will assess the tumor size and location, the person’s overall health, and how symptoms may be affecting daily life.13

There are other important factors to consider:

  • During surgery, the surgeon tries to remove the entire desmoid tumor and some surrounding healthy tissue to make sure they removed it all. Doctors call this surrounding area a “clear margin” where no tumor cells are visible12
    • Unfortunately, even with a clear margin, sometimes desmoid tumors still come back (recurrence)26-29
  • Completely removing a desmoid tumor and getting a clear margin may be difficult. That’s because desmoid tumors have far-reaching “tendril-like” growths that radiate outward.24,30
    • If any part of the desmoid tumor is left after surgery (called a “positive margin”), there is a high risk of recurrence 28,31
  • Desmoid tumors can come back after surgery 24%-77% of the time.28,32 The risk maybe higher for people who
    • Are diagnosed at a younger age26
    • Have tumors in certain locations (intra-abdominal, chest wall or limbs)26
    • Have a larger tumor size26
    • Have already had a desmoid tumor come back after surgery31
  • There is a likelihood of additional surgeries for people who have had desmoid tumor surgery. For some, multiple procedures have led to short- or long-term problems with doing daily activities and symptoms such as pain, weakness, or decreased movement31,33

National Comprehensive Cancer Network® (NCCN®) and the Desmoid Tumor Working Group (DTWG).

Radiation Therapy: Radiation therapy can be used where surgery would not be feasible and medications are not available.4

Cryoablation: Extreme cold is used to destroy tumor tissue. A cold gas is pumped into the tumor through a thin needle.13,34 The tissue thaws and the freezing and thawing are repeated several times to destroy the cells.34 Cryoablation can be used for small to medium tumors that are not in the abdomen.23 Your doctor may recommend other ablation therapies to destroy tumor tissue as well.3

Clinical Trials: There is a need for more research into targeted, tolerable medications to treat desmoid tumors. You may want to ask your care team about the latest options, what new therapies are being studied in clinical trials, and whether or not you may be a good candidate for a clinical trial.8,35

For more information about treating desmoid tumors, go to NCCN.org and read more about the NCCN Guidelines for Patients® for Soft Tissue Sarcoma.13

Desmoid tumor experts no longer recommend surgery as the first option to treat desmoid tumors (except in certain situations).4,13 When making a decision about surgery, a team of experts should agree on whether surgery is appropriate. They will assess the tumor size and location, the person’s overall health, and how symptoms may be affecting daily life.13

During surgery, the surgeon tries to remove the entire desmoid tumor and some surrounding healthy tissue—called a “clear margin” where no tumor cells are visible.6
Unfortunately, even with a clear margin, sometimes desmoid tumors still come back (recurrence).26-29 Also, completely removing a desmoid tumor and getting a clear margin may be difficult. That’s because desmoid tumors have far-reaching “tendril-like” growths that radiate outward.24,30 If any part of the desmoid tumor is left after surgery (called a “positive margin”), there is a high risk of recurrence.28,31

Desmoid tumors can come back after surgery 24%-77% of the time.32,36 The risk may be higher for people who are diagnosed at a younger age. Other factors for a higher risk of recurrence include: tumor location (intra-abdominal, chest wall or limbs), a larger tumor size,26 and having a recurrence after a previous surgery.31

The infiltrative nature of desmoid tumors may make them challenging to remove surgically. Their “tendril-like” growths can extend into layers of tissue beyond the tumor itself.23 In contrast, lipomas are generally well defined within a thin capsule of tissue.37

After surgery lipomas generally do not come back (recur).38 However, desmoid tumors can come back after surgery—24% to 77% of the time.32,36 The risk may be higher for people who are diagnosed at a younger age. Other factors for a higher risk of recurrence include: tumor location (intra-abdominal, chest wall, or limbs), a larger tumor size,26 and having a recurrence after a previous surgery.31

Under a microscope, the cells of a lipoma look very different from the cells of a desmoid tumor.12,38 A biopsy of the tumor is the only way to see these differences before surgery. Ask your doctor whether a biopsy is appropriate for you. 

Based on medical studies, 60% to 98% of desmoid tumors show beta-catenin staining under a microscope,12 so it can be an important clue to diagnosis.  

Beta catenin is a protein found in cells throughout the body. One of the roles of beta catenin is to help regulate “cell signaling.”3 Cell signaling can instruct cells in the body when to grow and divide.39 Abnormal cell signaling may lead to tumor development and growth.39 Medical experts have found that beta catenin often accumulates excessively in desmoid tumor cells, causing tumors to overgrow.3

Lipomas are the most common type of soft tissue tumor.38 They occur far more frequently than desmoid tumors. 

  • 50% of soft-tissue tumors are lipomas40
  • 3% of soft-tissue tumors are desmoid tumors6

The rarity of desmoid tumors compared to lipomas may be one reason that desmoid tumors could be misdiagnosed as lipomas.23 For instance, among a sample of people whose desmoid tumors were misdiagnosed, 4 out of 10 tumors were mistaken for lipomas.41,†

From market research conducted by SpringWorks Therapeutics.41

Desmoid tumors and their “tendril-like” growths may be difficult to see fully using imaging tests like MRI, CT scans, or ultrasound.42 This may be another reason that a desmoid tumor could be misdiagnosed as a lipoma or another tumor type.  

It is not clear why some people develop desmoid tumors. However, there are some things that may make certain people more likely to get them than others.

  • Women are approximately 2 to 3 times as likely as men to be diagnosed with a desmoid tumor43,44,32
  • Recent pregnancy, injury, or surgery may increase risk as well45,46
  • Patients with familial adenomatous polyposis (FAP) have an approximately 850-fold higher risk of developing desmoid tumors than the general population47

If you are diagnosed with a desmoid tumor, you may want to ask your doctor directly about whether it is cancer. They will be able to advise you on the exact status of your tumor and what your next steps might look like.

To learn more about desmoid tumors, click here.

Though they do not metastasize (spread) to other parts of the body, desmoid tumors can grow, and sometimes very quickly.6 Their “tendril-like” growths can attach to and wrap around surrounding tissues and structures.23 If you are diagnosed with a desmoid tumor, your care team may focus on active surveillance to see if your tumor is growing before starting treatment.4

You may have heard desmoid tumors described as locally aggressive or invasive. This means that their “tendril-like” growths can attach to and wrap around surrounding tissues and structures.42 As these tumors grow, they can put pressure on blood vessels and nerves, or organs, like your intestines and lungs.6,48

While some people may not feel anything, the impact of desmoid tumors and their “tendril-like” growths wrapping around surrounding structures may cause pain (often neuropathic), changes to body shape and physical function, limited range of motion, sleep changes, shortness of breath, and fatigue.6 While these are some of the physical effects you may experience when living with a desmoid tumor, remember that these effects can be different for each person.2,49

In rare instances, desmoid tumors can be life-threatening depending on where they are located, how they grow, and your overall health.2,3,5,23 However, building a care team with the right specialists can help you get the best care for your specific needs. That’s why it’s so important to talk to your doctor about the location of your tumor and symptoms you may be experiencing.

Having FAP increases a person’s risk for developing desmoid tumors. Most often, desmoid tumors in people with FAP occur in abdominal locations.32 Doctors who diagnose desmoid tumors will want to know about any family history of FAP. A genetic test for FAP may be recommended for people who have a desmoid tumor.13

Sometimes, it’s recommended that people with FAP have a colectomy (surgery to remove the colon) as a way to prevent colon cancer. For some patients, this procedure can increase risk for desmoid tumors developing in the future.6

For more information about FAP or if you have additional questions, please ask your doctor. 

Medical therapy, also known as systemic therapy, describes treatment with medicines that travel through the bloodstream and can affect cells throughout the body.25

Your care team may prescribe medical therapies to help shrink and/or stabilize the tumor and manage symptoms.4,8

Medical therapy is recommended by experts as a first-line active treatment option for desmoid tumors that are growing and/or symptomatic in most tumor locations.8,13,||

The NCCN Guidelines for Patients recommend the following medical therapy options:8,13

Type of drug

How it is given

Gamma secretase inhibitor (GSI)

Pill

Tyrosine kinase inhibitor (TKIs)

Pill

Chemotherapy

Infusion

Nonsteroidal anti-inflammatory drugs (NSAIDs, for pain)

Pill

The NCCN Guidelines for Patients also recommend ablation and radiation therapy as treatment options for certain patients. Treatment choice will depend on the location of the tumor.13

The following websites are good places to check:

Advocacy Groups and Additional Resources

You may find it helpful to reach out to the organizations listed below for information, support, or to connect with others who are living with desmoid tumors.

The Desmoid Tumor Research Foundation (DTRF)

Global Genes

NCCN Guidelines for Patients® Soft Tissue Sarcoma

National Organization for Rare Disorders (NORD)

Northwest Sarcoma Foundation

Rein in Sarcoma

Sarcoma Alliance for Research Through Collaboration (SARC)

Sarcoma Foundation of America

You can also visit these websites for additional information about desmoid tumors.

  • MyDesmoidTumor Team Link
  • Desmoidians on Facebook Link
  • National Cancer Institute Link
  • Find a Sarcoma Center Link
  • Genetic and Rare Diseases Information Center Link
  • Introduction to Desmoid Tumors at Cancer.Net Link

SpringWorks Therapeutics, Inc. is providing these links to help patients find more information about desmoid tumors, but inclusion on this list does not represent an endorsement or a recommendation from SpringWorks for any group or organization. SpringWorks sponsored mydesmoidtumorteam.com and participated in the development of certain content. The other organizations listed are independent of SpringWorks Therapeutics.

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  41. Data on file. SpringWorks Therapeutics.
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