SAN ANTONIO, Texas, U.S.A.–An international team led by Dr. Patricia Dahia, M.D., Ph.D., of UT Health San Antonio, discovered a genetic mutation that explains why adults with severe congenital heart defects–who live with low oxygen in their blood–are at dramatically high risk for adrenal gland cancer.
The finding is being made public March 29 in the New England Journal of Medicine.
The study focused on patients who were born with cyanotic congenital heart disease and went on to develop adrenal gland or related tumors called pheochromocytomas or paragangliomas. Detailed genetic analysis of these cases revealed mutations in a gene that regulates a hypoxia (low oxygen)-related pathway called EPAS1, also known as HIF2A. Cyanotic refers to a bluish or purplish discoloration that occurs when blood levels of oxygen are low. Patients with cyanotic heart disease have a sixfold higher risk of developing the adrenal gland tumors than patients without this severe type of heart disease, but the genetic basis for this heightened incidence was unknown.
An amplified response
“It was suspected that in patients with cyanotic heart disease, the low oxygen levels might lead directly to the growth of pheochromocytomas,” said Dr. Dahia, professor of medicine in the Joe R.
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