Desmoid Tumors

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Desmoid tumors are rare, aggressive soft-tissue tumors characterized by locally invasive growth, significant morbidity, and a high rate of recurrence. They are often debilitating and disfiguring and can invade surrounding tissues and structures.

Desmoid tumors do not metastasize (spread from one body part to another), however, they are known for having unpredictable behavior and treatment approaches may vary. These tumors can cause severe pain and morbidity resulting from disfigurement, vascular constriction, and loss of physical function. When aggressive and near or involving vital structures, desmoid tumors can be life-threatening. 

Watch DeAnn's desmoid tumor story

Where do desmoid tumors grow?

While desmoid tumors can arise in any part of the body, the most common sites are the intra-abdominal and abdominal wall, lower extremities (hip, thigh, leg, and foot), thoracic/chest wall areas, upper extremities (arm, forearm, and hand), and the head and neck.

Head & Neck (8%)
Upper Extremities (14%)
Lower Extremities (16%)
Thoracic/Chest Wall (15%)
Intra-abdominal (20%)
Abdominal Wall (16%)
Other locations (11%)

Source: Constantinidou, Anastasia & Scurr, Michelle & Judson, Ian & Litchman, Charisse. (2012). Clinical Presentation of Desmoid Tumors. 10.1007/978-94-007-1685-8_2.

Who gets desmoid tumors?

While desmoid tumors can occur in people of almost any age, they are most commonly diagnosed in adults between 20-44 years of age. Women are also two to three times more likely to be diagnosed with a desmoid tumor than men. It is estimated that there are 1,000 to 1,650 new cases diagnosed each year in the United States with a population-proportionate incidence in other countries. 

What are the symptoms?

The severity of a desmoid tumor generally depends on the size and location of the tumor and the aggressiveness of its growth pattern. Typically, if the tumor is in the extremities or on the chest wall, most patients will notice a lump as the initial clinical presentation. Desmoid tumors and its “tendril-like” growths may also wrap around nearby structures, causing pain (often neuropathic, which is a nerve problem that causes pain), changes to body shape and physical function, limited range of motion, sleep changes, shortness of breath, and fatigue. 

What are the treatment options?

There are currently no approved therapies for the treatment of desmoid tumors. Historically, desmoid tumors were treated with surgical resection, but this approach has become less commonly recommended in recent treatment guidelines due to the documented high rates of tumor recurrence after surgery. Doctors also sometimes use systemic therapies off-label, including chemotherapies, tyrosine kinase inhibitors, and hormonal agents to try to treat desmoid tumors.

How are desmoid tumors diagnosed?

The definitive diagnosis of desmoid tumors is typically made with a core-needle biopsy, a procedure that removes tissue for pathology testing. Immunohistochemistry and genetic testing are recommended to make the diagnosis. Often it is helpful for an expert soft-tissue pathologist to confirm the desmoid tumor diagnosis to aid in an accurate and timely diagnosis.

What are the causes?

While exact causes for the development of desmoid tumors are unknown, hormone-dependent signaling, mechanical stresses, trauma, and healing processes have been proposed as possible factors involved in tumor development and growth. Desmoid tumors may be caused by genetic mutations in the DNA where fibroblasts (a cell that is critical to keeping the entire structure of our body intact) behave abnormally and turn into desmoid tumors. Other desmoid tumors are caused by mutations in a gene that causes Familial Adenomatous Polyposis (FAP). People with FAP are at high risk of developing abdominal desmoid tumors.

After a football injury, a lump grew in my wrist that caused swelling, pain and limited my range of motion. It took several years and many medical appointments to get a diagnosis of a desmoid tumor. I try my best not to let my desmoid tumor affect my everyday life. I embrace my scars, oddly shaped forearm, and discolored hairs from radiation. But the mental aspect of living with a desmoid tumor does affect me every day. I worry that I might break my reconstructed arm and be forced to undergo a very serious surgery or face something even worse.
Joe, Desmoid Tumor Patient

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* The organizations listed are independent of SpringWorks Therapeutics.

I was diagnosed with a desmoid tumor last year and am still searching for answers. My tumor is in my abdomen and I have been asked many times, ‘when are you due?’ or ‘congrats on having a baby!’ You can see how that can affect one emotionally and mentally, in addition to the physical effects. I pray that there are new advances for all living with desmoid tumors.
Branee, Desmoid Tumor Patient