Introduction
Materials and methods
Tumor material and patient characteristics
Characteristic |
TERT MUT |
TERT WT |
p value |
---|---|---|---|
Age (years) | |||
Median | 22.00 | 7.08 |
<0.0001
#
|
Range | 0.66–49.00 | 0.24–56.32 | |
NA | 1 | 0 | |
Gender | |||
Male | 56 | 236 | 0.47Φ
|
Female | 37 | 129 | |
NA | 3 | 5 | |
Histology | |||
MBEN | 3 | 8 | 0.59χ
|
Desmoplastic | 10 | 59 | |
Classic | 46 | 217 | |
LC/A | 11 | 38 | |
NA | 26 | 48 | |
M-stage | |||
M0 | 58 | 240 |
0.03
Φ
|
M1-3 | 12 | 103 | |
NA | 26 | 27 | |
TP53 status | |||
MUT | 4 | 12 | 0.78Φ
|
WT | 42 | 97 | |
NA | 50 | 261 | |
Subgroup | |||
WNT | 6 | 47 |
<0.0001
χ
|
SHH | 80 | 133 | |
Group 3 | 2 | 48 | |
Group 4 | 8 | 142 |
Gene expression and copy number analysis
Sanger sequencing
Genotyping assay
Statistical analysis
Results
Characteristics of TERT-mutated medulloblastomas
TERT mutations are specifically enriched in SHH medulloblastomas
Characteristic |
TERT MUT |
TERT WT |
p value |
---|---|---|---|
Age (years) | |||
Median | 25.00 | 3.00 |
<0.0001
#
|
Range | 0.66–49.00 | 0.24–52.00 | |
NA | 1 | 0 | |
Gender | |||
Male | 46 | 80 | 0.77Φ
|
Female | 31 | 48 | |
NA | 3 | 5 | |
Histology | |||
MBEN | 3 | 4 |
0.04
χ
|
Desmoplastic | 10 | 44 | |
Classic | 34 | 47 | |
LC/A | 10 | 16 | |
NA | 23 | 22 | |
M-stage | |||
M0 | 46 | 87 | 0.84Φ
|
M1-3 | 10 | 22 | |
NA | 24 | 24 | |
TP53 status | |||
MUT | 4 | 8 | 1Φ
|
WT | 38 | 71 | |
NA | 38 | 54 |