Comprehensive Genetic Profiling Possible for Central Nervous System Tumors

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Comprehensive Genetic Profiling Possible for Central Nervous System Tumors
Comprehensive Genetic Profiling Possible for Central Nervous System Tumors

A wide range of genetic alterations can be accurately and sensitively detected through a next-generation sequencing assay. The test can help guide the planning of treatment for brain cancers, according to findings reported in Neuro-Oncology.1

"The diagnosis of brain tumors has been based primarily on cellular features seen under the microscope," said senior investigator Marina Nikiforova, MD, professor of pathology, University of Pittsburgh School of Medicine (UPMC), and director of UPMC's Molecular and Genomic Pathology Laboratory.

"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."

The test, called GlioSeq™, was developed at UPMC and the University of Pittsburgh School of Medicine. It uses a single workflow to analyze for 68 genetic alterations.

The test was evaluated on 54 adult and pediatric brain tumor samples and compared to fluorescence in-situ hybridization, Sanger sequencing, and reverse transcription PCR. GlioSeq correctly identified 100% (71/71) genetic alterations that were known to be present based on the other techniques.

The information from GlioSeq™ allows the tumors to be classified and may indicate possible 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, MD, professor of neurology, neurosurgery and medical oncology at the University of Pittsburgh 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."

The project was funded in part by National Institutes of Health grants.


1. Nikiforova MN, Wald AI, Melan MA, et al. Targeted next-generation sequencing panel (GlioSeq) provides comprehensive genetic profiling of central nervous system tumors [published online ahead of print December 17, 2015]. Neuro Oncol. doi: 10.1093/neuonc/nov289.

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