Comprehensive genomic profiling of primary intracranial malignant neoplasms to reveal frequency of clinically relevant genomic alterations.

Journal of Clinical Oncology(2017)

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摘要
e13007 Background: Standard chemotherapy regimens have limited efficacy for primary intracranial tumors. Many patients remain without feasible treatment options after progressing through first and second line therapies. We used a comprehensive genomic profiling (CGP) assay for patients with primary intracranial neoplasia to identify new pathways to targeted therapy. Methods: DNA was extracted from 40 microns of FFPE sections in 31 tumor cases. CGP was performed on hybridization-captured, adaptor ligation based libraries to a mean coverage depth of 588X for 3,769 exons of 236 cancer-related genes plus 47 introns from 19 genes frequently rearranged in cancer. All classes of genomic alterations (GA) were evaluated. Clinically relevant genomic alterations (CRGA) were defined as GA linked to drugs on the market or under evaluation in mechanism-driven clinical trials. Results: Median age of patients was 55 years (range 17-68). 93.5% of tumors (29/31) were glial- derived, and the other 2 (6.5%) cases were mening...
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