Desmoid Tumors

Desmoid tumors, also called aggressive fibromatosis or desmoid-type fibromatosis, are rare and often debilitating and disfiguring soft-tissue tumors. They are characterized by a growth pattern that can invade surrounding healthy tissues, including joints, muscle and viscera. While they can arise in any part of the body, the most common sites are the upper extremities (arm, forearm, and hand), lower extremities (hip, thigh, leg, and foot), abdominal wall, thoracic areas, and the head and neck.

The severity of a desmoid tumor can vary based on the location of the tumor and the aggressiveness of its growth pattern. Desmoid tumors can cause significant morbidities, including severe pain, internal bleeding, incapacitating loss of range of motion, and, in rare cases, death.1

Clinical Representation of Desmoid Tumors

While desmoid tumors can occur in people between 15 and 60 years of age, they are most 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.1,2 It is estimated that there are 1,000 to 1,500 new cases diagnosed each year in the United States.3,4

Causes

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.

Current Treatments

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.

Our Investigational Therapy

Nirogacestat is an oral, small molecule, gamma-secretase inhibitor that has been investigated in 24 patients with desmoid tumors across Phase 1 and Phase 2 clinical trials. SpringWorks is enrolling patients in the “DeFi” (Desmoid/Fibromatosis) trial , a Phase 3, double-blind, randomized, placebo-controlled, global clinical trial in adults with progressing desmoid tumors.

The FDA granted Orphan Drug Designation for nirogacestat for the treatment of desmoid tumors and Fast Track and Breakthrough Therapy Designations for nirogacestat for the treatment of adult patients with progressive, unresectable, recurrent or refractory desmoid tumors or deep fibromatosis.

Learn More

Patient Foundation:

Desmoid Tumor Research Foundation

The mission of The Desmoid Tumor Research Foundation is to aggressively fund research to accelerate the development of improved therapies, and ultimately find a cure for desmoid tumors. The foundation collaborates with dedicated researchers and clinicians worldwide to improve the lives of patients through education, awareness, and support.7

References:

1 Gounder, M. M., Thomas, D. M., & Tap, W. D. (2017). Locally Aggressive Connective Tissue Tumors. Journal of Clinical Oncology, 36(2), 202-209. doi:10.1200/JCO.2017.75.8482.

2 Skubitz, K. M. (2017). Biology and Treatment of Aggressive Fibromatosis or Desmoid Tumor. Mayo Clinic Proceedings, 92(6), 947-964. doi:10.1016/j.mayocp.2017.02.012

3 Reitamo, J J; Häyry, P; Nykyri, E; Saxén, E. (1982). The desmoid tumor. I. Incidence, sex-, age- and anatomical distribution in the Finnish population. American Journal of Clinical Pathology, 77(6), 665-673. doi: 10.1093/AJCP.77.6.665

4 van Broekhoven, D. L., Grünhagen, D. J., den Bakker, M. A., van Dalen, T., & Verhoef, C. (2015). Time trends in the incidence and treatment of extra-abdominal and abdominal aggressive fibromatosis: a population-based study. Annals of surgical oncology, 22(9), 2817–2823. doi:10.1245/s10434-015-4632-y

5 Scaramussa, F.S. & Castro, U. B. (2016). Desmoid Tumor in Hand: A Case Report. SM Journal of Orthopedics, 2(3),1036.