About This Project
Specific mutations in the β-catenin gene have been associated with a higher likelihood of desmoid tumors coming back after surgery.
We suspect that this mutation is also associated with survival, this will allow us to group patients with desmoid tumors by their prognosis and offer those with poor prognosis other therapies different from surgery.
We will identify the specific mutations in the β-catenin gene (CTNNB1) and determine the difference in survival of patients with desmoid tumors.
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What is the context of this research?
Desmoid tumors are tumors that arise from cells called fibroblasts. Fibroblasts are found throughout our body and their main function is to provide structural support and protection to the vital organs and they also play a critical role in wound healing. When fibroblast cells undergo mutations they can become cancerous and become desmoid tumors. They can arise in virtually any part of the body. These tumors often occur in women in their 30's, but can occur in anyone at any age. can be slow growing or extremely aggressive. They do not metastasize (move from one body part to another), and if slow growing they can be carefully watched by your physician. However, when they are aggressive they can cause life threatening problems or even death when they compress vital organs.
What is the significance of this project?
Our findings will provide a way to stratify patients with desmoid tumors by their risk, which will in turn allow us to offer individualized therapies to patients depending on the specific mutations each one has.
What are the goals of the project?
- Update the clinical database of our cohort of patients with desmoid tumors
- Process over 100 already stored tissue samples to identify the specific mutations in the β-catenin gene - CTNNB1 Mutational Analysis
- Analyze the data and run statistical models to determine the difference in survival and risk between the groups
All the funding will go towards the CTNNB1 mutational analysis to identify the specific mutations in the β-catenin gene.
Statistical analysis and clinical database update will have no cost.
Meet the Team
Jorge received his Medical Degree from Anahuac University in Mexico City, after which he did a Research Fellowship at the Center for Coronary Artery Anomalies at the Texas Heart Institute, Houston, focusing on catheter-based coronary interventions to decrease symptomatology of patients with coronary artery anomalies or hypertrophic cardiomyopathy. Jorge also took part in projects related to sudden cardiac death risk assessment and prevention in young adults and the role of endothelial dysfunction on the pathophysiology of Takotsubo cardiomyopathy. Afterwards, he completed a Postdoctoral Research Fellowship at Mayo Clinic, focusing on genomics in hematological malignancies, mainly Multiple Myeloma, as well as the role of calcium isotopic composition on multiple myeloma-induced bone disease and MM disease activity. Jorge is now an Internal Medicine resident at the University of Miami.
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Image by Leszek Woźniak & Krzysztof W. Zieliński
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