UT Health Science Center team finds adrenal cancer gene

SAN ANTONIO (July 28, 2010) — Researchers at The University of Texas Health Science Center San Antonio have found a gene that, when mutated, causes one type of adrenal cancer.

The adrenal glands, one located above each kidney, release dozens of hormones that regulate the body’s response to stress. Adrenaline, for example, regulates heart rate, blood pressure, sweating and other physiological responses. The adrenal glands also maintain proper balances of fluids and electrolytes.

About 800 cases of an adrenal cancer called pheochromocytoma are diagnosed annually in the U.S. Understandings gleaned from discovery of the new cancer gene, called TMEM127, may extend to patients with other cancers, said Patricia Dahia, M.D., Ph.D., assistant professor of hematology and medical oncology in the Health Science Center School of Medicine.

She is a member of the Cancer Therapy & Research Center (CTRC) at the UT Health Science Center and works with the CTRC Cancer Development and Progression Program. The CTRC is a National Cancer Institute-designated Cancer Center.

TMEM127 normally suppresses tumor formation, but abnormal TMEM127 contributes to pheochromocytoma, which is a tumor of nerve-like cells of the adrenal gland. “This tumor can appear in families or in single individuals and we found TMEM127 mutations in both cases,” Dr. Dahia said. “It is mutated only in individuals who develop the tumor but not in normal individuals or healthy relatives of patients.”

Discovery of a cancer gene has important implications for diagnosis. Patients who carry the TMEM127 mutation are at a higher risk for development of a tumor. “These patients can be clinically followed more closely and a tumor can be identified at very early stages of development, when the chances of cure are greater,” Dr. Dahia said.

Relatives can be screened for the same mutation and diagnosed early, as well. The team is broadening its studies to determine which other tumors have TMEM127 mutations.

“This study highlights the idea that some tumors thought of as sporadic (not running in families) may have a ‘disguised’ hereditary factor,” Dr. Dahia said. “This has important implications not only for patients themselves but for their family members.”

The study also found a link between TMEM127 function and a molecule known to be involved in cancer and aging, mTOR. TMEM127 might reduce mTOR function in the body, findings suggest. “TMEM127’s physiological effects, therefore, may be quite broad in cancer and possibly in aging and metabolic disorders,” Dr. Dahia said.

The study, published in Nature Genetics earlier this year, was an international collaborative effort that involved many investigators, both at the Health Science Center and outside, as part of an international Consortium for Pheochromocytoma that Dr. Dahia established several years ago.

Funding was from the Max and Minnie Tomerlin Voelcker Fund, the Sidney Kimmel Cancer Research Foundation, the CTRC, and the Health Science Center’s Clinical and Translational Science Award from the National Institutes of Health.

Citation: Qin Y, Yao L, King EE, Buddavarapu K, Lenci RE, Chocron ES, Lechleiter JD, Sass M, Aronin N, Schiavi F, Boaretto F, Opocher G, Toledo RA, Toledo SP, Stiles C, Aguiar RC, Dahia PL. Nat Genet. 2010 Mar;42(3):229-33. Epub 2010 Feb 14.


The University of Texas Health Science Center at San Antonio, one of the country’s leading health sciences universities, ranks in the top 3 percent of all institutions worldwide receiving National Institutes of Health (NIH) funding. Research and other sponsored program activity totaled a record $259 million in fiscal year 2009. The university’s schools of medicine, nursing, dentistry, health professions and graduate biomedical sciences have produced approximately 26,000 graduates. The $739 million operating budget supports eight campuses in San Antonio, Laredo, Harlingen and Edinburg. For more information on the many ways “We make lives better®,” visit www.uthscsa.edu.

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