Table 1:
CASE | Age | Sex | Location | NF1 clinical status |
History of Radiation |
Temporal PA precursor |
Extent of Resection |
Necrosis | ALT | ATRXIHC | IDH1(R132H) | p53 IHC | BRAF Duplication |
BRAF (V600E) | H3-K27M | p16 IHC | CDKN2A (FISH or NGS) | Other | Treatment for precursor |
Status |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | 17 | M | Cerebellum | Sporadic | No | Yes | STR | Yes | POSITIVE | Lost | Negative* | Strongly positive | Negative | Negative* | Negative* | observation | Dead | |||
2 | 68 | M | fourth ventricle | Sporadic | No | No | STR | Yes | POSITIVE | Lost | Negative | negative | Negative | Negative | Negative | loss | No mutation | NF1 p.E595Nfs*14, c.1783_1784delGA; ATRX p.T1239fsN*10, c.3715dupA | Dead | |
3 | 13 | F | Cerebellum | Sporadic | No | No | GTR | Yes | POSITIVE | Lost | Negative* | negative | Alive | |||||||
4 | 12 | F | cerebellum | NF1 | No | No | Yes | NEGATIVE | Preserved | Negative* | focal | Negative* | Negative* | Partial loss | Dead | |||||
5 | 22 | M | Pineal | NF1 | No | No | STR | No | POSITIVE | Lost | Negative* | Negative* | Dead | |||||||
6 | 74 | F | cerebellum | Sporadic | Yes | Yes | POSITIVE | partial | Negative* | Strongly positive | Unknown | Dead | ||||||||
7 | 40 | F | Lateral ventricle | Sporadic | Yes | Yes | STR | Yes | POSITIVE | partial | Negative* | focal | Negative | Negative | Negative* | loss | Irradiation | Alive | ||
8 | 31 | M | Spinal cord | Sporadic | Yes | Yes | Yes | POSITIVE | Lost | Negative* | Strongly positive | Positive | Negative* | Negative* | loss | Irradiation | Alive | |||
9 | 53 | F | Cerebellum | Sporadic | Yes | Yes | Yes | POSITIVE | Lost | Negative* | Strongly positive | Positive | Negative | positive | No mutation | H3F3A p.K27M, ATRX p. R1739X, TP53 I255S | irradiation +temozolomide | Alive | ||
10 | 66 | M | Cerebellum | Sporadic | Yes | Yes | No | POSITIVE | Preserved | Negative* | focal | Negative* | Negative* | irradiation +chemo | Alive | |||||
11 | 12 | M | 3rd ventricle | Sporadic | No | No | STR | Yes | NEGATIVE | Preserved | Negative* | focal | Negative | Negative* | Negative* | loss | Alive | |||
12 | 3 | M | L hemisphere | Sporadic | No | No | GTR | Yes | NEGATIVE | Preserved | Negative* | Negative | Negative* | Negative* | Partial loss | Alive | ||||
13 | 4 | M | Posterior fossa | Sporadic | No | No | STR | Yes | POSITIVE | Lost | Negative* | Strongly positive | Negative | Negative* | positive | Partial loss | No mutation | H3F3A p.K27M, KRAS p.Q61H, TP53 p.C275F, ATRX p.E1767, ATRX p.R2085 | Dead | |
14 | 22 | F | Cerebellum | Sporadic | yes | Yes | Yes | POSITIVE | lost | Negative* | focal | Positive | Negative* | Negative* | loss | irradiation +chemo | Alive | |||
15 | 24 | M | Cerebellum | NF1 | No | Yes | GTR | No | POSITIVE | lost | Negative* | focal | Negative | Negative | Negative* | No mutation | NF1 mutation, STAG2 p.R1207T mutation, ATRX p.Q219fs deletion, LOH | observation | Alive | |
16 | 36 | M | Cerebellum | Sporadic | No | Yes | GTR | Yes | POSITIVE | lost | Negative* | focal | Positive | Negative* | observation | Alive | ||||
17 | 5 | M | Cerebellum | Sporadic | No | GTR | No | NEGATIVE | Preserved | Negative* | Positive | Negative* | Partial loss | no deletion | Alive | |||||
18 | 36 | F | cerebellum | Sporadic | No | No | No | POSITIVE | lost | Negative* | Negative | Negative* | Positive | Partial loss | no deletion | Alive | ||||
19 | 46 | F | R temporal lobe | NF1 | No | No | GTR | No | NEGATIVE | Preserved | Negative* | Negative | Negative* | Negative* | preserved | Dead | ||||
20 | 75 | M | L temporal lobe | Sporadic | No | No | GTR | No | NEGATIVE | Preserved | Negative* | Negative | Negative | Negative* | partial loss | no deletion | Dead | |||
21 | 29 | M | cerebellum | NF1 | No | No | STR | No | POSITIVE | Lost | Negative* | Negative | Negative* | Negative* | homozygous deletion | observation | Dead | |||
22 | 10 | M | 3rd ventricle | Sporadic | No | No | STR | No | POSITIVE | Lost | Negative* | Negative | Negative* | Positive | No deletion | Dead | ||||
23 | 70 | M | cerebellum | Sporadic | No | No | Yes | NEGATIVE | Preserved | Negative* | Negative | Negative* | Negative* | homozygous deletion | Dead | |||||
24 | 28 | M | cerebellum | Sporadic | Yes | Yes | Yes | POSITIVE | Negative* | Negative* | Negative* | Irradiation | Dead | |||||||
25 | 11 | M | R frontal lobe | Sporadic | No | No | GTR | Yes | NEGATIVE | Preserved | Negative* | Negative | Negative | Negative* | No deletion | Alive | ||||
26 | 11 | F | R occipital lobe | NF1 | No | No | GTR | No | NEGATIVE | Preserved | Alive | |||||||||
27 | 14 | M | cerebellum | Sporadic | No | No | Yes | NEGATIVE | Preserved | Negative* | Negative* | Dead | ||||||||
28 | 20 | M | cerebellum | Sporadic | No | No | Yes | POSITIVE | lost | Negative* | Positive | Negative* | Negative* | No deletion | Dead | |||||
29 | 27 | M | cerebellum | Sporadic | Yes | Yes | GTR | Yes | POSITIVE | Lost | Negative* | Positive | Negative* | Negative* | Homozygous deletion | Irradiation | Dead | |||
30 | 39 | F | cerebellum | Sporadic | Yes | Yes | Yes | POSITIVE | Lost | Negative* | Positive | Negative* | Negative* | No deletion | Irradiation | Dead | ||||
31 | 46 | M | L parietal lobe | NF1 | No | Yes | STR | Yes | POSITIVE | Lost | Negative* | Negative* | Negative* | observation | Dead | |||||
32 | 73 | F | tectum | Sporadic | No | Yes | STR | Yes | POSITIVE | Preserved | Negative | Negative | Negative | Negative* | No deletion | observation | Dead | |||
33 | 51 | M | spinal cord | Sporadic | No | No | STR | No | POSITIVE | partial | Negative* | Negative | Negative* | Positive | No deletion or mutation | H3F3A p.K27M, ATRX pS856del, NF1 p.L2398M, AKT1 p.R206S, BRAF p.L64I, TSC1 p.G389 fs | Dead | |||
34 | 18 | M | L parietal lobe | NF1 | No | Yes | NEGATIVE | Preserved | focal | Negative* | loss | Alive | ||||||||
35 | 25 | F | Tectum | Sporadic | Yes | Yes | No | POSITIVE | Preserved | Negative* | focal | Negative | Negative | Negative | No mutation | NF1 p.R816*, NF1 p.A2099D, H3F3A p.A115G | Irradiation | Alive | ||
36 | 20 | F | R cerebellum | Sporadic | No | No | STR | Yes | POSITIVE | Preserved | Negative* | Strongly positive | Negative | BRAF p.D594G | Negative | loss | No mutation | NF1 p.Y1545* NF1 p.K1440* | Alive |
NF1=neurofibromatosis type 1, STR=subtotal resection, GTR=Gross total resection, PA=pilocytic astrocytoma, ALT=alternative lenghtening of telomeres, IHC=immunohistochemistry
Evaluated by immunohistochemistry