Mary Smith, PhD, of SpringWorks Therapeutics explains the past, present, and future treatment options for Desmoid tumors.

Desmoid tumors are benign soft tissue tumors that can invade surrounding tissues, suchas joints, muscle and viscera. Historically, treatment was limited to surgery and/or watchful waiting, but new therapies are in development, such as SpringWorks nirogacestat.

Nirogacestat is a gamma secretase inhibitor currently being investigated in a Phase 3 clinical trial involving adults and a Phase 2 clinical study involving children with Desmoid tumors.

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Fariba Navid, MD, Associate Professor of Clinical Pediatrics, Keck School of Medicine of USC, gives an overview of Desmoid tumors.

As Dr. Navid explains in the video, Desmoid tumors are benign tumors that can grow anywhere on the body into surrounding healthy tissues, including joints, muscle, and viscera. These rare tumors can cause significant pain, internal bleeding, and reduced mobility. The pain, according to Dr. Navid, is the most common reason patients reach out to their doctors for diagnosis and treatment.

Currently, the most common course of action for Desmoid tumors is to “wait and watch” as these tumors can shrink on their own. Surgery to remove the tumors may also be used. However, as Dr. Navid says, surgery is not always ideal. Systemic therapies are currently in development.

Though Desmoid tumors are typically sporadic and do not run in families, about 10% of people who get Desmoid tumors have Gardner syndrome. Gardner syndrome is caused by a mutation of the APC gene and often involves benign growths in the colon. Dr. Navid warns physicians to be aware that those with Gardner syndrome may develop Desmoid tumors as a first sign and that these individuals are at high risk for developing colon cancer.

For more information about Desmoid tumors and other rare tumors, visit checkrare.com/cancers/

James Cassidy, MD, PhD, Chief Medical Officer at SpringWorks Therapeutics, gives an overview of Desmoid tumors.

As Dr. Cassidy explains, Desmoid tumors are tumors that can grow anywhere on the body into surrounding healthy tissues, including joints, muscle, and viscera. These rare tumors can cause significant pain, internal bleeding, and reduced mobility. Although these tumors do not metastasize, they can be locally aggressive.

Additionally, as Dr. Cassidy notes, these tumors often recur and each recurrence tends to be more aggressive than the previous tumor. Currently, there is no systemic therapy approved for Desmoid tumors, but nirogacestat is currently being evaluated in a global phase 3, double-blind, placebo-controlled clinical trial (the DeFi trial) in adults, as well as in a pediatric study.

For more information about Desmoid and other rare tumors, visit checkrare.com/cancers/