19 Feb New Gene Pathway Underlies Some Tumors in Tuberous Sclerosis Complex
MedicalResearch.com Interview with:
Jeanine D’Armiento, M.D., Ph.D.
Associate Professor of Medicine in Anesthesiology
Director of the Center for Molecular Pulmonary Disease in Anesthesiology and Physiology and Cellular Biophysics
Director, Center for LAM and Rare Lung Disease
New York, NY 10032
Medical Research: What is the background for this study? What are the main findings?
Dr. D’Armiento: I am the Director of the Center for Lymphangiomyomatosis (LAM) and Rare Lung Disease at Columbia University; the Center focuses on this proliferative lung disease, which arises spontaneously or as the pulmonary manifestation of the Tuberous Sclerosis Complex (TSC). We have one of the largest cohorts of these patients in the country. Through an understanding of the pathogenesis of LAM our research aims to identify novel therapeutic targets of the disease to improve the care of these patients.
Building on our previous research we demonstrated that the HMGA2 gene and its signaling pathway (the route of information which begins an action within cells), are required to produce tumors in the lung and kidneys in individuals with Tuberous Sclerosis Complex.
Medical Research: What should clinicians and patients take away from your report?
Dr. D’Armiento: Recently, a new medication for Lymphangiomyomatosis has been FDA approved however not all patients with the disease respond to the treatment. Our research supports the fact that there is an alternative pathway in the disease and suggests that targeting this novel pathway might be an alternative treatment. This represent a different view on the mechanism of tumor formation in tuberous sclerosis and presents a paradigm shift in our understanding of this syndrome.
Medical Research: What recommendations do you have for future research as a result of this study?
Dr. D’Armiento: Our research presents an alternative pathway for therapy in Lymphangiomyomatosis. Since the HMGA2 pathway is also activated in other forms of cancer, specifically breast and colon, future research in identifying therapies will also be applicable to other forms of more widespread cancers.
D’Armiento, T. Shiomi, S. Marks, P. Geraghty, D. Sankarasharma, K. Chada. Mesenchymal Tumorigenesis Driven by TSC2 Haploinsufficiency Requires HMGA2 and Is Independent of mTOR Pathway Activation. Cancer Research, 2016; 76 (4): 844 DOI:10.1158/0008-5472.CAN-15-1287
Jeanine D’Armiento, M.D., Ph.D. (2016). New Gene Pathway Underlies Some Tumors in Tuberous Sclerosis Complex