Researchers investigate brain tumor origins

With the launch of a new study focused on determining the genetic origins of acoustic neuromas, Yale researchers hope not only to improve the limited research and information surrounding these rare brain tumors but also to redefine the actual approach with which epidemiological studies are conducted.

Spearheaded by Professor Elizabeth Claus, director of medical research for Yale’s School of Public Health, the study aims to discover the genetic variants associated with acoustic neuromas, tumors located on the hearing nerve that can result in hearing loss and impaired balance. The study started up earlier this month through initial funding support from the Acoustic Neuroma Association, and Claus is currently applying for additional grants. By analyzing online questionnaire data and DNA samples from patients with the disease, Claus seeks to identify risk factors for the tumor.

“Nobody has really done anything for acoustic neuroma,” Claus said. She hopes to reveal more information about these tumors by looking for genetic variants that come into play with the disease. In the long term, she said, doctors may be able to act against these variants with drugs and other screening processes instead of primarily relying on radiation therapy and surgery.

Jeffrey Harris, distinguished professor of otolaryngology and neurological surgery at the University of California, San Diego, emphasized the potential benefits of identifying a clear-cut genetic mutation for acoustic neuromas. This study could help determine whether other environmental factors may account for the development of acoustic neuromas, he said.

“A genetic link may open up new medical rather than surgical or stereotactic radiation treatments as options for patients,” Harris added in a Monday email.

Finding a hereditary factor linked to an increased probability of developing acoustic neuroma could pave the way for innovative methods of aiding patients with acoustic neuromas as well, said Elias Michaelides, Yale professor of surgery and director of Yale’s Otolaryngology Program.

“We would be able to screen patients and detect [acoustic neuromas] when they were quite small in order to preserve functions of the ear,” he said. “Sooner to discover means easier to treat for those with acoustic neuroma.”

Oftentimes, in a clinical setting, doctors end up seeing a fair number of people with asymmetric hearing loss, which can lead to imaging tests such as MRIs, professor of surgery in otolaryngology Peter Manes said. Genetic variants for acoustic neuroma would not only open the door for new treatments but could also result in a decrease in the overutilization of imaging technologies, he added.

The rarity of acoustic neuroma makes the condition difficult to study. The actual data collection process — finding a large population of patients with acoustic neuromas willing to supply both their medical information and their DNA — stands as the largest obstacle.

However, Claus believes her new approach to recruiting patients, which she calls “peer-driven research,” has the potential not only to help her succeed with this particular study but also to redefine future epidemiology studies. Instead of using traditional techniques that involve contacting patients individually, Claus is employing a social networking-type strategy that revolves around patients recruiting new patients for the study through email, social media and other community groups.

Prior to this study, internet-based recruiting had been reserved for commercial uses such as 23andMe, a for-profit DNA sequencing company, Claus said, adding that she wants to transfer this novel approach into academia and science in the hopes that internet patient-to-patient recruiting will save a significant amount of both time and money. In the field of epidemiology, this strategy is novel, Claus said.

According to the University of Texas School of Medicine in San Antonio, approximately 3,000 new cases of acoustic neuromas are diagnosed each year in the United States alone.

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