Human mesenchymal tumor FFPE tissue targeted capture sequencing (1219-gene panel)
Specimen: FFPE tumor tissue from 55-year-old female patient diagnosed with GLI1-altered mesenchymal tumor. Tumor cellularity 60%. Genomic DNA was extracted from FFPE block, quantified 272 ng total DNA. Library constructed via hybridization capture using a 1219 solid tumor gene panel. Sequencing performed on Illumina NovaSeq 6000, paired-end mode. Mean target coverage 2475.59, deduplicated depth 2023.84, on-target rate 77.25%. Somatic alterations detected: MDM2 amplification (copy number=10), GLI1 amplification (copy number=8). TMB=0.00 mutations/Mb, MSI status MSS, all MMR genes wild-type.