Page 49 - Molecular features of low-grade developmental brain tumours

SEGA IN TSC HAVE TSC1/TSC2 BIALLELIC INACTIVATION & NO BRAF MUTATIONS
Table 3A. Summary of results for TSC1/TSC2 mutational analysis in 34 SEGA samples by MPS. 1 NMI
Case (#)
Gene
Nucleotide change
MAF (%)
Mutation type
Protein change
CN- LOH
Summary
2 NMI
3 TSC1
4 TSC1
5 TSC1
6 TSC1
7 TSC1
8 TSC1
9 TSC1
10 TSC1
11 TSC1
12 TSC1
13 TSC2
14 TSC2
15 TSC2
16 TSC2
17 TSC2
18 TSC2
19 TSC2
20 TSC2
21 TSC2
22 TSC2
23 TSC2
24 TSC2
25 TSC2
26 TSC2
TSC1 c.1-7G>A
chr9:135700060- 135799506del
c.1498C>T c.641_644dupAGAC c.2074C>T c.1525C>T c.2699dupA c.1802dupC c.935dupA c.1525C>T c.2695C>T
c.4375C>T
c.3412C>T
c.2353C>T c.2221-1G>C c.790_791delCT
c.903_922delG- GCTCTCTGGGGAG- CCCACC
c.5227_5244delCG- GCTCCGCCACAT- CAAG
c.1832G>A c.3526_3527insT c.1513C>T
c.3171_3172insA
c.268C>T c.2251C>T
c.5227_5244delCG- GCTCCGCCACAT- CAAG
50
78
71
93
39
12
65
79
29
76
70
50
68 12 55 30
34
72
65 38 47
17
75 63
80
Possible
initiator No
possible TSC1 mutation, no CN-LOH
large del+CN- LOH
point+CN-LOH point+CN-LOH point+CN-LOH Point-no LOH point+CN-LOH point+CN-LOH point+CN-LOH point+CN-LOH point+CN-LOH
point no LOH (sporadic SEGA; no other signs of TSC)
point+CN-LOH point+CN-LOH point+CN-LOH point, no LOH
point+CN-LOH
point+CN-LOH
point+CN-LOH point+CN-LOH point+CN-LOH
point -no LOH
point+CN-LOH
point+CN-LOH
point+CN-LOH (sporadic SEGA; no other signs of TSC)
Genomic deletion Nonsense Insertion Nonsense Nonsense Insertion Insertion Nonsense Nonsense Nonsense
Nonsense
Nonsense Nonsense Splice Deletion
Deletion
In-frame deletion
Missense Insertion Nonsense
Insertion
Nonsense Nonsense
In-frame deletion
deletion of Yes exons 6-23
p.R500* Yes p.F216Dfs*3 Yes p.R692* Yes p.R509* No p.Q901Efs*3 Yes .P602Sfs*4 Yes p.Y312* Yes p.R509* Yes p.Q899* Yes
p.R1459* No
p.R1138* Yes p.Q785* Yes p.L741_splice Yes p.L264Wfs*73 No
p.W304Ffs*27 Yes
p.R1743_
K1748del Yes
p.R611Q Yes p.P1176fs Yes p.R505* Yes
p.T1059Nfs*109 No
p.Q90* Yes p.R751* Yes
p.R1743_ Yes K1748del
47
2