Ohio State Researchers Discover Hereditary Predisposition to Melanoma of the Eye

December 08, 2011

COLUMBUS, Ohio – Ohio State University researchers have discovered a hereditary cancer syndrome that predisposes certain people to a melanoma of the eye, along with lung cancer, brain cancer and possibly other types of cancer.

The hereditary cancer syndrome is caused by an inherited mutation in a gene called BAP1, researchers say. The findings suggest that BAP1 mutations cause the disease in a small subset of patients with hereditary uveal melanoma and other cancers.

Uveal melanoma is a cancer of the eye involving the iris, ciliary body, or choroid, which are collectively known as the uvea. These tumors arise from the pigment cells, also known as melanocytes that reside within the uvea giving color to the eye. This is the most common type of eye tumor in adults.

The findings are reported in the Journal of Medical Genetics.

“We are describing a new cancer genetic syndrome that could affect how patients are treated,” said first author Dr. Mohamed H. Abdel-Rahman, researcher at the Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute. “If we know that a patient has this particular gene mutation, we can be more proactive with increased cancer screenings to try to detect these other potential cancers when they are beginning to grow.”

Study leader Dr. Frederick H. Davidorf, professor emeritus of ophthalmology at Ohio State University, explained that BAP1 seems to play an important role in regulating cell growth and proliferation, and that loss of the gene helps lead to cancer.

“If our results are verified, it would be good to monitor these patients to detect these cancers early when they are most treatable,” said Davidorf, who treats ocular oncology patients at Ohio State along with researcher and physician Dr. Colleen Cebulla.

The study involved 53 unrelated uveal melanoma patients with high risk for hereditary cancer, along with additional family members of one of the study participants. Of the 53 patients in the study, researchers identified germline variants in BAP1 in three patients.

“We still don’t know exactly the full pattern of cancers these patients are predisposed to, and more studies are needed,” said Abdel-Rahman, also an assistant professor of ophthalmology and division of human genetics at Ohio State University College of Medicine.

“So far, we’ve identified about six families with this hereditary cancer syndrome. We are working with researchers at Nationwide Children’s Hospital to develop a clinical test to screen for the BAP1 gene mutation,” he said. “Families with this cancer syndrome should be screened for inherited mutations that increase their risk for developing several other cancers.”

Other Ohio State researchers involved in the study include Robert Pilarski, James B. Massengill, Benjamin N. Christopher and Getachew Boru, along with Peter Hovland of the Colorado Retina Associates in Denver.

Funding from the Patti Blow Research Fund in Ophthalmology and the American Cancer Society supported this research.

The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute strives to create a cancer-free world by integrating scientific research with excellence in education and patient-centered care, a strategy that leads to better methods of prevention, detection and treatment. Ohio State is one of only 41 National Cancer Institute (NCI)-designated Comprehensive Cancer Centers and one of only seven centers funded by the NCI to conduct both phase I and phase II clinical trials. The NCI recently rated Ohio State’s cancer program as “exceptional,” the highest rating given by NCI survey teams. As the cancer program’s 210-bed adult patient-care component, The James is a “Top Hospital” as named by the Leapfrog Group and one of the top 20 cancer hospitals in the nation as ranked by U.S. News & World Report.

# # #

Contact: Eileen Scahill, Medical Center Public Affairs and Media Relations, 614-293-3737, or Eileen.Scahill@osumc.edu


Contact Media Staff

Amanda Harper

Director of Media Relations

614-685-5420 (direct)

614-293-3737 (main)

Amanda.Harper2@osumc.edu


Media staff are available by calling 614-293-3737 Monday through Friday between 8 a.m. and 5 p.m.

 

If after hours, please call 614-293-8000 (ask the operator to page the hospital administrative manager).

Latest News

Individualizing Treatments for Multiple Myeloma

This week on Toward a Cancer-Free World, Dr. Craig Hofmeister shares how using an actual virus to help treat certain blood cancer patients may just get us even closer to a cancer-free world.

Read More

Generating New Hope Through Pelotonia-Funded Research

Pelotonia funds support cancer drug development projects at Ohio State. Here’s a brief look at a basic-science study of a targeted agent that may improve cancer-killing virus therapy, and two clinical...

Read More

Blood and Marrow Transplant Nurses Win National Award for Patient Care Excellence

Nurses with the Blood and Marrow Transplant program at The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute (OSUCCC – James)...

Read More