Abstract LB-377: Validation and application of a comprehensive next generation sequencing system for molecular characterization of solid tumor tissues

Abstract

Abstract Identification of somatic molecular alterations in solid tumors and metastases can provide critical information regarding tumor biology and tumor heterogeneity. These alterations can also reveal activated pathways in a patient's disease, enabling personalized treatment assignment. However, the optimal methods and panels remain unknown. The present study was conducted to assess the use of the Oncomine Comprehensive Cancer Panel in identifying molecular alterations in fresh and preserved cancer tissues from a solid tumor registry at The University of Texas Health Science Center at Houston. Results were compared with pathologic findings. The assay was found to be highly specific (>99%) and sensitive (>99%), with low false-positive and false-negative rates for single-nucleotide variants, indels, copy number alterations, and gene fusions. This tumor-agnostic molecular assessment assay holds potential as a straightforward and reliable method to determine molecular alterations in solid tumor samples. Overall, 23 (88%) of these 26 patients had at least one loss-of-function or gain-of-function molecular alteration (80/180 total high-priority alterations), of which 68% (66/80) led to selection of targeted therapy. This next-generation sequencing assay not only detected at least one clinically actionable alteration, but also it can be a great translational research tool. For instance, using this panel we detected EGFRvIII in a significant number of renal cell cancer core biopsies (43%). The biological importance of this alteration in renal cancer growth and progression and its clinical importance as a therapeutic or prognostic marker needs to be investigated further. Citation Format: Mehdi Dehghani, Lei Li, Reynolds Brobey, Yue Wang, Kevin P. Rosenblatt, Robert J. Amato. Validation and application of a comprehensive next generation sequencing system for molecular characterization of solid tumor tissues [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2018; 2018 Apr 14-18; Chicago, IL. Philadelphia (PA): AACR; Cancer Res 2018;78(13 Suppl):Abstract nr LB-377.