Skip to main content

Table 1 Summary of Clinical information and WES and RNA-seq analysis

From: Integrated genomic and transcriptomic analysis revealed mutation patterns of de-differentiated liposarcoma and leiomyosarcoma

  All LMS DDLPS
Sample size
 WES 32 20 12
 RNA-seq 16 8 8
Age (years)
 Median 51 49.5 54
 Range 16–70 16–65 37–70
Gender (%)
 Male 12 (37.5%) 3 (15%) 9 (75%)
 Female 20 (62.5%) 17 (85%) 3 (25%)
WES
 TMB (counts/Mb)
  Median 2.27 2.61 1.97
  Range 1.20–16.1 1.57–16.1 1.20–4.51
 MSI score (%)
  High 1 (3.1%) 1 (5%) 0 (0%)
  Low 31 (96.9%) 19 (95%) 12 (100%)
 SNP + Indel 2887 2110 1088
 CNA gain   113 1089
RNA-seq
 Up-regulated   2404 2364
 Gene fusion 40 4 36
 RT-PCR verified 8/12 (66.7%) 1/4 (25%) 7/8 (87.5%)
  1. * TMB is reported as counts/Mb. It is calculated by all nonsynonymous mutations detected in WES divided by 35 Mb. 35 Mb is the sum of exome probes in WES
  2. WES whole exome sequencing, TMB tumor mutation burden, MSI microsatellite instability