The Genetic Landscape of Human Glioblastoma and Matched Primary Cancer Stem Cells Reveals Intratumour Similarity and Intertumour Heterogeneity
Table 3
Genetic profile of the main markers of IDH-wildtype GBM in our cohort of GBMs and GSCs.
Gene/ID
Pt 2
Pt 3
Pt 9
Pt 10
Pt 15
Pt 33
Pt 56
Pt 60
Pt 85
Pt 90
% tumours altered
TERT promoter mutation
GBM
c.-124C>T
WT
c.-146C>T
c.-124C>T
c.-124C>T
WT
c.-124C>T
c.-146C>T
c.-124C>T
c.-124C>T
72-90%
GSC
c.-124C>T
WT
c.-146C>T
c.-124C>T
c.-124C>T
WT
c.-124C>T
c.-146C>T
c.-124C>T
c.-124C>T
MGMT methylation
GBM
5%
4%
4%
12%
31%
15%
3%
2%
2%
58%
40-50%
GSC
4%
2%
3%
9%
14%
20%
3%
2%
1%
86%
MGMT CN
GBM
NA
LOSS
LOSS
LOSS
LOSS
LOSS
LOSS
LOSS
LOSS
LOSS
/
GSC
NA
NA
LOSS
LOSS
NA
LOSS
LOSS
LOSS
LOSS
LOSS
EGFR CN
GBM
GAIN (4)
AMP
GAIN
GAIN (4)
AMP
AMP
AMP
AMP
GAIN
GAIN
35-45% amplified
GSC
GAIN
GAIN
GAIN
GAIN
AMP
GAIN
GAIN
AMP
GAIN
GAIN
PTEN/10q CN
GBM
LOSS
LOSS
LOSS
LOSS
LOSS
LOSS
LOSS
LOSS
LOSS
LOSS
75-95% deleted
GSC
LOSS
NA
LOSS
LOSS
NA
LOSS
LOSS
LOSS
LOSS
LOSS
CDKN2A CN
GBM
LOSS
DEL
DEL
DEL
DEL
DEL
NA
LOSS
DEL
DEL
35-50% deleted
GSC
DEL
GAIN
DEL
DEL
LOSS
DEL
DEL
DEL
DEL
DEL
NFKB1 CN
GBM
NA
NA
LOSS
NA
NA
NA
NA
NA
NA
NA
25% deleted
GSC
NA
NA
LOSS
NA
NA
NA
NA
NA
NA
GAIN
PDGFRA CN
GBM
NA
NA
AMP
NA
NA
NA
NA
NA
NA
NA
13% amplified
GSC
NA
NA
AMP
NA
NA
NA
NA
NA
NA
GAIN
MDM4 CN
GBM
NA
NA
NA
NA
NA
AMP
NA
NA
NA
NA
7% amplified
GSC
NA
GAIN
NA
NA
NA
AMP
NA
NA
NA
NA
MET CN
GBM
GAIN
GAIN
GAIN
GAIN
NA
GAIN
GAIN
GAIN
GAIN
GAIN
4% amplified
GSC
GAIN
GAIN
GAIN
GAIN
NA
GAIN
GAIN
GAIN
GAIN
GAIN
Percentage of mutated tumours as defined by the reported references. CN: copy number; NA: not altered; DEL: log2 values <-1; LOSS: log2 values <0 and >-1; GAIN: log2 values >0 and <2; AMP: log2 values >2.
