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
Back to article page

BMC Cancer

ISSN: 1471-2407

Contact us