ArticleEinstein (Sao Paulo, Brazil)2026
Real-world genomic profiling of solid tumors: validation and clinical insights from a Brazilian cohort.
Article in Einstein (Sao Paulo, Brazil), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
16 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPrecision medicine has transformed cancer management by tailoring treatments to the molecular characteristics of a patient's tumor. Comprehensive Genomic Profiling enables the simultaneous analysis of multiple genomic alterations using next-generation sequencing assays, providing detailed molecular profiles of tumors. This approach allows more accurate cancer classification, guides decisions regarding targeted therapies, enhances the precision of treatment strategies, and improves patient outcomes in oncology.
objectiveIn this article, we describe the analytical validation of the Illumina TruSight Oncology 500 (TSO500) assay in a (CAP)-certified clinical laboratory in Brazil and present real-world findings from Comprehensive Genomic Profiling performed on 454 patients with cancer, highlighting the genomic landscape, including novel fusion events.
methodsTumor samples collected between January 2020 and September 2023 were subjected to Comprehensive Genomic Profiling using the TSO500 assay. Library preparation and sequencing (Illumina NextSeq) were performed according to the manufacturer's protocol, followed by bioinformatics processing using an in-house pipeline for alignment, variant calling, and annotation. Variants were classified according to the Variant Interpretation for Cancer Consortium guidelines. Analytical performance metrics, including specificity and positive predictive value, were calculated for assay validation.
resultsThe test demonstrated a specificity of 93.39% and a positive predictive value of 73.36%. Regarding Comprehensive Genomic Profiling, 57.85% of all detected variants were classified as variants of uncertain significance, and 42.15% were oncogenic. Gene fusions, including both novel and canonical events, were detected in 13% of cases.
conclusionThe TSO500 assay provides crucial insights into patient genomics, aiding diagnosis, prognosis, and treatment decisions. Demonstrating high levels of accuracy, reproducibility, and sensitivity, the TSO500 advances cancer research to the forefront of molecular technology.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.