The test, called GlioSeq™, is now being used by UPMC oncologists to
help guide treatment planning of brain cancers, said senior
investigator Marina Nikiforova, M.D., professor of pathology, Pitt
School of Medicine, and director of UPMC’s Molecular & Genomic
Pathology Laboratory. Her team’s findings about the test were recently
published in Neuro-Oncology.
“The diagnosis of brain tumors has been based primarily on cellular
features seen under the microscope,” Dr. Nikiforova said. “However,
patients with tumors that look identical may experience different
clinical outcomes and responses to treatment because the underlying
genetic characteristics of their tumors differ. We designed this panel
to quickly identify those traits from very small biopsies of the brain
lesion.”
For the study, the researchers used GlioSeq™ to test 54 adult and
pediatric brain tumor samples for genetic abnormalities, including point
mutations, gene fusions, and small gene insertions and deletions that
had already been characterized by other means. They used next-generation
sequencing to simultaneously identify all previously known alterations,
as well as many additional genetic markers in these tumors. This
provided important information on classification of these tumors, and on
possible new targets for therapy.
“This can help guide the physician and the patient in planning
treatment, since the molecular information allows us to more precisely
characterize tumors and more confidently predict survival and response
to therapy. In addition, Glioseq™ facilitates the identification of
clinical trial options with the appropriate molecular targets, as well
as cases in which molecularly targeted drugs are available,” said
co-investigator Frank Lieberman, M.D., professor of neurology,
neurosurgery and medical oncology at Pitt and director of the Adult
Neuro-Oncology Program at UPMC CancerCenter, partner of the University
of Pittsburgh Cancer Institute.
“Using GlioSeq™ helps us to understand in detail the genetic
profile of brain tumors, and takes us one step closer to personalized
management of our patients,” Dr. Nikiforova said. “We are also working
on further improving this test to include additional, recently
discovered molecular alterations.”