Page 96 - Molecular features of low-grade developmental brain tumours

SEGA Age Gender Mutation Location of Epilepsy (#) (years) tumour
Age of Tumour onset Frequency recurrence/
regrowth
4
CHAPTER 4
Table 1. Summary of clinicopathological features of patients with SEGA.
1a,c 10 2a 11
3a 8 4a,b,c 13
5*a 1 6a 13 7a 14
male
female male
female male male male
TSC2
TSC2 TSC2
TSC1
TSC2
TSC2
TSC2
TSC1
TSC2
TSC2 TSC2
TSC2 TSC1 NMI TSC1
ventricle
ventricle ventricle
ventricle
ventricle
leftcaudate nucleus
yes
no yes
yes yes yes
3 years
none
4 months
5-10 per no day
none no none no
8a,b,c 4 male
ventricle ventricle
ventricle ventricle
ventricle
ventricle
left caudate nucleus
right caudate nucleus
yes yes
no yes
yes yes yes yes
yes
yes
yes
yes no yes
months
5 months
none
1 month
4 months
un- unknown known
9a 7 10a,b,c 17
11a 1
12a 13
13a 24
14a 8
15a 9 male
month
> 10 per no day
none no daily no
1 per week yes
5-10 per no day
weekly no 2years monthly no
16a 28 17a 33 18a 1
19a,b 28 20b.c 16
21*b.c 1
female
male
male
male male male
unknown
unknown basalnuclei unknown leftcaudate
unknown
female
female female
male male male
6 years 1 year
TSC2 TSC1 TSC2
nucleus ventricle ventricle ventricle
6 daily yes months
8 monthly no months
7 years 3 per day yes
none none no
1 daily no month
foramenof no Monro
17 monthly no months
1 daily no month
6 weekly no months
none none no 3 >10per yes
unknown
94
SEGA samples used for RNA-Seq and RT-qPCR (a), Western blotting (b) or immunohistochemistry (c). AED = antiepileptic drugs; AML = angiomyolipoma; SEN = subependymal nodule. * SEGA samples obtained