05:50am Wednesday 29 January 2020

Genetic Contribution to Risk for Pituitary Tumors Identified

The pituitary is a small gland located at the base of the brain that secretes hormones, helping to maintain the internal environment of the body. Tumors of the pituitary gland are prevalent in the general population, occurring in nearly1 of every 5 people. The cause of most pituitary tumors remains largely unknown, although a genetic contribution is recognized for some types.

“Pituitary tumors are remarkably common,” says William T. Couldwell, M.D., Ph.D., professor and chairman of the Department of Neurosurgery at the University of Utah School of Medicine and lead author of the study. “Using genealogical information from the Utah Population Database, we were able to identify statistical support for a genetic predisposition to symptomatic pituitary tumors.”
The Utah Population Database (UPDB) is a computerized data resource consisting of genealogical and demographic data representing the Utah population, and it currently includes more than 2.5 million people with at least 3 generations of data linking back to the Utah pioneers. Couldwell and his colleague Lisa Cannon-Albright, Ph.D., professor of biomedical informatics, combined information from the UPDB with data from the Utah Cancer Registry to investigate the genetic relationships among individuals with pituitary tumors.

Couldwell and Cannon-Albright analyzed the genetic relationships among 741 individuals diagnosed with benign or malignant pituitary tumors. To find evidence of a genetic component to tumor susceptibility, they used a statistic called the genealogical index of familiarity (GIF) to assess the degree of genetic closeness or “relatedness between pairs of individuals with pituitary tumors. They found that average relatedness among individuals with diagnosed pituitary tumors was significantly higher than expected.
“In addition to finding that the relatedness between people with pituitary tumors was higher than anticipated, we also found that first- and third-degree relatives of individuals with pituitary tumors were at significantly higher risk than the general population to develop the disease,’ says Couldwell. “By identifying and studying high-risk pedigrees in the UPDB, we might be able to identify the gene or genes responsible for this genetic contribution.”

Pituitary tumors cause symptoms because of over- or underproduction of hormones or due to mass effect on surrounding structures. Despite the high prevalence of these tumors, only a minority are recognized to show symptoms that require treatment.  It is suspected that many patients have milder symptoms from pituitary tumors that go unrecognized. Early identification of at-risk relatives with pituitary tumors might enable early treatment, prior to the onset of hormone abnormalities or neurological deficits.
“Knowing that there is a heritable predisposition to the development of pituitary tumors is valuable for counseling family members of patients treated for pituitary tumors,” says Couldwell. “It is also helps to raise the index of suspicion for detection of symptomatic pituitary tumors in such individuals.”

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Media Contacts

Dennis Jolley
Director of Marketing and Public Affairs , University of Utah Clinical Neurosciences Center
Phone: (801) 585-7777
Cell Phone: (801) 824-7217
Email: dennis.jolley@hsc.utah.edu

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