TruSight Oncology 500 (TSO500)

Overview

TruSight Oncology 500 (TSO500) is an Illumina hybrid-capture targeted sequencing panel covering 523 genes for DNA variant detection (SNVs, indels, CNVs, TMB, MSI) and 55 genes for RNA fusion and splice-variant detection. It is designed for tumor-only sequencing workflows on Illumina NovaSeq or NextSeq instruments. Variant filtering in clinical/research applications typically uses ClinVar-benign exclusion and population allele frequency thresholds to distinguish somatic from germline events in the absence of matched normal.

Used by

  • Illumina TruSight Oncology 500 (DNA + RNA) panel applied to 31/88 sinonasal adenoid cystic carcinoma cases on NovaSeq 6000; identified pathogenic mutations in 21/31 (68%) tumors including BCOR (19%), NOTCH1 (14%), EP300 (14%); panel detected four noncanonical RNA fusions but missed ~10% of AdCCs detectable only by FISH PMID:24418857
  • TruSight Oncology 500 panel used to profile 133 young Indian NSCLC patients (Malik et al.), finding EGFR mutations in 35.5%, ALK rearrangements in 65.7%, ROS1 fusions in 7.25%, and KRAS in 3.7%; the review recommends broad NGS panels like TSO500 as standard for young patients PMID:27346245

Notes

  • Tumor-only workflow; no matched normal required. Germline contamination and rare variants of unknown significance remain a concern without paired normal sequencing.
  • RNA fusion detection via the TSO500 panel can miss rearrangements lacking a known fusion partner at the RNA level; complementary FISH is recommended for MYB/MYBL1/NFIB/EWSR1 rearrangements in adenoid cystic carcinoma.
  • Unverified corpus-grown slug; TSO500 is not a cBioPortal gene panel identifier.

Sources

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