The Desmoid Tumor Research Foundation (DTRF) has awarded Justin Cates, M.D., Ph.D., associate professor of Pathology, Microbiology and Immunology, with one of its five research grants for his work studying growth/recurrence determinants related to genetic factors in desmoid-type fibromatosis (DTF) patients.
Desmoid tumors are rare tumors that can form in the connective tissues of virtually any part of the body. Individuals between ages 15-60 are most commonly affected, but the disease can occur in anyone.
When aggressive, desmoid tumors can cause life threatening problems, or even death, as they compress and/or damage vital organs such as intestines, kidneys, lungs, blood vessels and nerves.
Approximately 900 people in the United States are diagnosed with desmoid tumors annually, but experts believe that number may be greater because of difficulty in diagnosing the disease. Treatment options include medication, radiation therapy or surgery.
“There is currently no cure for desmoid-type fibromatosis, and it has been traditionally difficult to identify a universally appropriate treatment,” Cates said.
“Identifying genetic factors that predict the disease’s likely behavior could have a huge impact on clinical outcomes for DTF patients and greatly improve relief of their symptoms.”
Clinical, histopathologic and molecular predictors of DTF outcome have remained elusive but specific mutations of the CTNNB1 gene have been shown to have prognostic significance.
Cates’ research seeks a correlation between specific mutations of the CTNNB1 gene (and other potential genetic drivers) and DTF behaviors.
DTRF is the only foundation in the country dedicated to funding desmoid tumor research and better treatment options for desmoid tumor patients. The foundation also provides patient support, awareness and education.
“Our work leads us to patients who endure painful, heartbreaking consequences from this disease,” said DTRF Executive Director Marlene Portnoy said. “Being able to participate in research that could maximize the effectiveness of treatment options reaffirms our primary goal of supporting patients.”
