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. 2020 Jul 31;15:184. doi: 10.1186/s13014-020-01619-y

Table 2.

Detailed information on patients harboring the ATM mutation

Patient number #1 #2 #3 #4 #5 #6 #7 #8 #9 #10
Mutation Missense mutation Missense mutation Missense mutation Missense mutation Missense mutation Frameshift deletion Missense mutation Missense mutation Frameshift insertion Missense mutation
VAF (%) 43.01 53.22 46.3 79.92 11.8 25.88 92.49 6.45 5.08 0.369
Amino acid change p.R2832H p.R924O p.K92T p.P2974L p.L822S p.L2946Nfs*9 p.K92T p.L413I p.S28212Vfs*3 p.P260T
Sequence change c.8495G > A c.2771G > A c.275A > C c.8921C > T c.2465 T > C c.8835_8836delGT c.275A > C c.1237C > A c.8432dupA c.778C > A
Age, years 63 51 47 35 32 43 37 58 63 59
Sex Male Female Female Female Male Male Female Male Male Male
KPS 70 90 80 90 80 80 90 80 100 60
Pathology GBM GBM GBM GBM GBM GBM AA, IDH-WT AA, IDH-WT AA, IDH-WT AA, IDH-WT
MGMT promoter methylation (−) (+) (+) (−) (+) (+) (−) (−) (+) (+)
SVZ involvement Yes None Yes Yes Yes Yes Yes Yes Yes Yes
Gliomatosis No No Yes Yes No Yes No Yes Yes Yes
Extent of resection Subtotal Subtotal Partial Subtotal Subtotal Subtotal Partial Subtotal Partial Subtotal
Total RT dose, Gy 60 60 60.2 60 60 60 60 60.2 60 60
PD Yes Yes No Yes No No No Yes No No
PD interval, months 11.6 18.9 18.0 14.4 15.4
Progression site* Out-field Out-field Out-field Out-field Out-field
Salvage treatment CTx Re-RT BSC BSC Re-RT
Follow-up, months 22.7 19.8 20.8 15.0 8.1 11.4 18.7 17.3 19.2 11.1
Survival Dead Alive Dead Dead Alive Alive Alive Alive Alive Alive

Abbreviations: VAF Variant Allele Frequency, KPS Karnofsky performance status, GBM glioblastoma, AA anaplastic astrocytoma, IDH isocitrate dehydrogenase, WT wild-type, MGMT O[6]-methylguanine-DNA methyltransferase, SVZ subventricular zone, RT radiation therapy, PD progressive disease, CTx chemotherapy, Re-RT re-irradiation, BSC best supportive care

* Progression site was defined based on relationship between radiation field and recurrence site