What is a desmoid tumor?
Desmoid tumors, also called aggressive fibromatosis or desmoid-type fibromatosis, are rare, locally invasive and often debilitating and disfiguring soft-tissue tumors. While they can arise in any part of the body, the most common sites are the upper extremities (arm, forearm, and hand), lower extremities (hips, thigh, leg, and foot), abdominal wall, head and neck. Desmoid tumors can cause significant morbidities, including severe pain, internal bleeding, incapacitating loss of range of motion, and, in rare cases, death.
CLINICAL REPRESENTATION OF
INTRA-ABDOMINAL / ABDOMINAL WALL
What causes desmoid tumors?
While the cause of most desmoid tumors is unknown, most desmoid tumors have mutations in a gene called catenin beta-1, which controls activity of other genes; promotes growth, activity, and division of cells; and helps cells stick together to form tissues. Other desmoid tumors are caused by mutations in a gene called APC that causes Familial Adenomatous Polyposis (FAP). People with FAP are at high risk of developing abdominal desmoid tumors.
Who is at risk for desmoid tumors?
While desmoid tumors can occur in people between 15 and 60 years of age, they are more commonly diagnosed in young adults between 30-40 years of age. Women are also 2 to 3 times more likely to develop them than men. It is estimated that there are 1,000 to 1,500 new cases diagnosed each year in the United States.
How are desmoid tumors treated?
There are currently no medicines approved for the treatment of desmoid tumors. Historically, desmoid tumors were treated with surgical resection, but this approach has become less favored due to a high recurrence rate after surgery. Doctors may also use systemic therapies, including chemotherapies, off-label to treat desmoid tumors. SpringWorks is testing a gamma secretase inhibitor called nirogacestat in a Phase 3 clinical trial known as the DeFi trial.