Comprehensive genomic profiling of over 10,000 advanced solid tumors

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// Jean-Paul De La O 1 , Jess R. Hoag 1 , Angela K. Deem 1 , Min Wang 1 , Arthur Starodynov 1 , Sameer S. Udhane 1 , Janine R. LoBello 1 , Nishitha Therala 1 , David W. Hall 1 , Gargi D. Basu 1 and Frederick L. Baehner 1 1 Exact Sciences Corporation, Madison, WI 53719, USA Correspondence to: Jean-Paul De La O, email: jdelao@exactsciences.com Keywords: solid tumors; comprehensive genomic profiling; matched therapy; gene fusions; limit of detection Received: March 06, 2025 Accepted: June 27, 2025 Published: July 25, 2025 Copyright: © 2025 De La O et al. This is an open access article distributed under the terms of the Creative Commons Attribution License (CC BY 4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. ABSTRACT Purpose: To summarize clinically relevant genomic alterations in solid tumor samples from over 10,000 patients. Methods: Descriptive statistics were used to summarize findings of retrospectively analyzed OncoExTra assay data from solid tumor samples. Results: The analysis cohort included 11,091 solid tumor samples from 10,768 patients. Therapeutically actionable alterations were present in 92.0% of patient samples. Biomarkers associated with on- or off-label FDA-approved therapies were detected in 29.2% and 28.0% of samples, respectively. The prevalence of hotspot alterations detected at variant allele frequency (VAF) <5% was analyzed among 7,481 samples (67.5%) harboring ≥1 of these events: 13.7% (1,022 of 7,481) had ≥1 alteration detected at VAF <5%, and 9.8% (558 of 5,690) of hotspot alterations associated with an on- or off-label FDA-approved therapy were detected at VAF <5%. Common and rare mutations in the TERT promoter were found in 8.4% (933) of samples. Whole transcriptome sequencing detected clinically relevant fusions in 7.5% of samples, with highest frequencies in prostate cancer (42.0%). The METe14 transcript was found in 14 NSCLC samples (2.7%). Conclusions: The broad capabilities of the OncoExTra assay detected therapeutically actionable and other clinically relevant genomic events that can inform clinical decision-making for patients with advanced solid tumors.

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