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.
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.
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.
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.”
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.
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.
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.
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.
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.”
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.
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.
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