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Updated: Jul 16, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
11:15

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

Real-world genomic profiling of solid tumors: validation and clinical insights from a Brazilian cohort

Thalita Xavier de Souza1, Roberta Cardoso Petroni1, Larissa Barbosa de Lima2

  • 1Hospital Israelita Albert Einstein, São Paulo, SP, Brazil.

Einstein (Sao Paulo, Brazil)
|July 15, 2026
PubMed
Abstract

Insights

The Illumina TSO500 assay accurately profiles cancer genomics for precision medicine. Comprehensive Genomic Profiling identified oncogenic variants and gene fusions in 454 patients, aiding treatment decisions.

Area of Science:

  • Oncology
  • Genomics
  • Molecular Diagnostics

Background:

  • Precision medicine leverages tumor molecular characteristics for tailored cancer treatment.
  • Comprehensive Genomic Profiling (CGP) uses next-generation sequencing for detailed tumor molecular profiles.
  • CGP enhances cancer classification, targeted therapy guidance, and patient outcomes.

Purpose of the Study:

  • To analytically validate the Illumina TruSight Oncology 500 (TSO500) assay in a clinical laboratory setting.
  • To present real-world findings from CGP in 454 cancer patients.
  • To highlight the genomic landscape, including novel fusion events.

Main Methods:

  • Tumor samples underwent CGP using the TSO500 assay (January 2020-September 2023).
  • Standard library preparation, Illumina NextSeq sequencing, and in-house bioinformatics pipeline were employed.
  • Analytical performance metrics (specificity, positive predictive value) were calculated.

Main Results:

  • The TSO500 assay showed 93.39% specificity and 73.36% positive predictive value.
  • Of detected variants, 42.15% were oncogenic, and 57.85% were of uncertain significance.
  • Gene fusions were detected in 13% of cases, including novel events.

Conclusions:

  • The TSO500 assay provides critical genomic insights for cancer diagnosis, prognosis, and treatment.
  • The assay demonstrates high accuracy, reproducibility, and sensitivity.
  • TSO500 advances cancer research through molecular technology.

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