|
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%)
|
- * 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
- WES whole exome sequencing, TMB tumor mutation burden, MSI microsatellite instability