Table 2.
Alterations of the MAPK/ERK and PI3K/AKT pathways in histologically anaplastic PA (n = 25), clinically aggressive PA (n = 24), and conventional PA (n = 43)
| Case # | Age | Sex | Location | NF1 clinical status | Tumor type | PTEN FISH | PTEN qRT-PCR FC FINAL | pAKT IHC | pS6 IHC | BRAF FISH | pERK IHC | P16 FISH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 5 | M | Cerebellum | Sporadic | APA | 1.07 | 2 | 2 | Dup | 3 | Normal | |
| 2 | 70 | M | Cerebellum | Sporadic | APA | Het Del | 2 | 2 | Normal | HD | ||
| 3 | 28 | M | Cerebellum | Sporadic | APA | WT | 2 | 3 | 2 | |||
| 4 | 11 | M | R frontal lobe | Sporadic | APA | WT | −13 | 3 | 3 | +7 | 3 | Normal |
| 5 | 36 | F | Cerebellum | Sporadic | APA | Het Del | −19 | 1 | 3 | Dup+ 7 | 3 | Normal |
| 6 | 29 | M | Cerebellum | NF1 | APA | Het Del | −3.9 | 2 | 3 | Normal | 3 | HD |
| 7 | 20 | M | Cerebellum | Sporadic | APA | WT | 1 | 2 | Dup | 2 | Normal | |
| 8 | 27 | M | Cerebellum | Sporadic | APA | Het Del | 1.9 | 2 | 3 | Dup | 2 | HD |
| 9 | 75 | M | L temporal lobe | Sporadic | APA | WT | 2 | 1 | +7 | 3 | Normal | |
| 10 | 10 | M | 3rd ventricle | Sporadic | APA | WT | 3 | 2 | +7 | 3 | Normal | |
| 11 | 39 | F | Cerebellum | Sporadic | APA | −1.44 | 3 | Dup | Normal | |||
| 12 | 46 | M | L parietal lobe | NF1 | APA | WT | −6 | 2 | 0 | |||
| 13 | 46 | F | R temporal lobe | NF1 | APA | WT | −3.6 | 0 | 0 | +7 | 3 | Normal |
| 14 | 73 | F | Tectum | Sporadic | APA | WT | −7 | 2 | +7 | 3 | Normal | |
| 15 | 51 | M | Spinal cord | Sporadic | APA | Het Del | −1.75 | 2 | 3 | Normal | Normal | |
| 16 | 19 | M | Cerebellum | NF1 | APA | WT | ||||||
| 17 | 26 | M | Cerebellum | NF1 | APA | WT | ||||||
| 18 | 16 | M | Spinal cord | Sporadic | APA | Het Del | 2 | +7 | Normal | |||
| 19 | 49 | F | Cerebellum | Sporadic | APA | WT | 0 | |||||
| 20 | 21 | F | Medulla | Sporadic | APA | WT | 2 | +7 | Normal | |||
| 21 | 33 | M | L parietal lobe | NF1 | APA | WT | ||||||
| 22 | 55 | F | Cerebellum | Sporadic | APA | 3 | +7 | |||||
| 23 | 41 | M | Pineal region | Sporadic | APA | −1.9 | ||||||
| 24 | 11 | F | R occipital lobe | NF1 | APA | 3 | 3 | |||||
| 25 | 14 | M | Posterior fossa | Sporadic | APA | 0 | Failed | |||||
| 26 | 39 | F | Cerebellum | Sporadic | Agg PA | WT | 1 | 0 | Normal | 3 | ||
| 27 | 4 | F | Suprasellar | Sporadic | Agg PA | 2 | 0 | Dup | 3 | |||
| 28 | 28 | M | 3rd ventricle | Sporadic | Agg PA | 0 | Normal | 2 | ||||
| 29 | 32 | M | R lat ventricle | Sporadic | Agg PA | WT | 1 | 3 | +7 | 3 | ||
| 30 | 10 | M | R parietooccipital | Sporadic | Agg PA | WT | 0 | 0 | Dup | |||
| 31 | 23 | F | 4th ventricle | Sporadic | Agg PA | WT | 1 | 1 | +7 | 3 | ||
| 32 | 4 | F | R thalamus | NF1 | Agg PA | |||||||
| 33 | 6 | F | L frontal lobe | Sporadic | Agg PA | WT | 0 | 2 | Normal | 3 | Normal | |
| 34 | 26 | M | R temporoparietal | Sporadic | Agg PA | WT | 2 | 0 | +7 | 3 | Normal | |
| 35 | 50 | M | Cerebellum | Sporadic | Agg PA | |||||||
| 36 | 39 | F | L frontal lobe | Sporadic | Agg PA | 0 | 0 | 3 | Normal | |||
| 37 | 1 | F | Posterior fossa | Sporadic | Agg PA | WT | −1.56 | 2 | 2 | Dup | 3 | Normal |
| 38 | 42 | F | L temporal lobe | Sporadic | AggPA | WT | −1.05 | 2 | 0 | Dup | 3 | Normal |
| 39 | 44 | M | R frontal lobe | Sporadic | Agg PA | WT | 2 | Dup | 3 | Normal | ||
| 40 | 6 | F | Posterior fossa | Sporadic | AggPA | WT | 2 | 3 | Normal | 2 | Normal | |
| 41 | 18 | M | Cerebellum | Sporadic | Agg PA | WT | 1 | 0 | Dup | 2 | Normal | |
| 42 | 37 | M | Cerebellum | Sporadic | Agg PA | 2 | Normal | 3 | Normal | |||
| 43 | 23 | F | L thalamus | Sporadic | Agg PA | WT | 1.04 | 2 | 1 | Normal | 3 | Normal |
| 44 | 22 | M | 3rd ventricle | Sporadic | Agg PA | WT | −2.3 | 2 | 3 | Dup | 2 | Normal |
| 45 | 7 | M | 3rd ventricle | Sporadic | Agg PA | WT | 1 | 3 | Normal | 2 | Normal | |
| 46 | 3 | M | Cerebellum | Sporadic | Agg PA | 0 | 0 | Normal | ||||
| 47 | 34 | M | Posterior fossa | Sporadic | Agg PA | 3 | ||||||
| 48 | 2 | M | Cerebellum | Sporadic | Agg PA | 2 | Normal | |||||
| 49 | 23 | M | R temporal lobe | Sporadic | Agg PA | −2.6 | Normal | |||||
| 50 | 7 | F | L temporal lobe | Sporadic | PA | 1 | 0 | Normal | 2 | |||
| 51 | 17 | M | L frontal lobe | NF1 | PA | WT | −1.72 | 2 | 2 | Normal | 3 | |
| 52 | 14 | F | 3rd ventricle | Sporadic | PA | WT | 2 | 2 | Normal | 2 | ||
| 53 | 13 | M | R frontal lobe | NF1 | PA | WT | 1.64 | 2 | 2 | Normal | 3 | |
| 54 | 33 | M | Spinal cord | Sporadic | PA | WT | 0 | Failed | 2 | |||
| 55 | 10 | M | Cerebellum | NF1 | PA | −2.56 | 0 | 3 | Normal | 3 | ||
| 56 | 22 | M | R parietal lobe | Sporadic | PA | WT | 0 | 0 | Normal | 2 | ||
| 57 | 9 | F | Suprasellar | Sporadic | PA | 1 | 0 | Normal | 2 | |||
| 58 | 14 | F | R temporal lobe | Sporadic | PA | WT | 0 | 0 | Normal | |||
| 59 | 18 | F | Cerebellum | Sporadic | PA | WT | 0 | 0 | Normal | 2 | ||
| 60 | 2 | M | L optic nerve | NF1 | PA | −1.78 | ||||||
| 61 | 21 | M | L parietooccipital | Sporadic | PA | WT | 1 | 0 | Dup | 2 | ||
| 62 | 5 | M | Posterior fossa | Sporadic | PA | WT | 1 | 0 | Normal | 2 | ||
| 63 | 21 | F | Temporal lobe | NF1 | PA | 1 | 3 | Normal | 3 | |||
| 64 | 5 | F | L optic nerve | NF1 | PA | 0 | 2 | |||||
| 65 | 2 | F | L lat ventricle | NF1 | PA | 0 | 0 | Normal | 2 | |||
| 66 | 30 | F | R lat ventricle | NF1 | PA | 0 | 3 | Normal | 3 | |||
| 67 | 18 | F | Cervicomedullary | Sporadic | PA | WT | 0 | 2 | Dup | 2 | ||
| 68 | 4 | M | Posterior fossa | Sporadic | PA | WT | 0 | 0 | Normal | 2 | ||
| 69 | 16 | M | Posterior fossa | Sporadic | PA | WT | 2 | 3 | Normal | 3 | ||
| 70 | 58 | M | L frontotemporal | Sporadic | PA | −2.6 | +7 | |||||
| 71 | 11 | F | Midbrain | Sporadic | PA | 0 | Dup | 2 | ||||
| 72 | 1 | F | Posterior fossa | Sporadic | PA | WT | 0 | 0 | Dup | 2 | ||
| 73 | 37 | M | L frontal lobe | Sporadic | PA | WT | 2 | +7 | 3 | |||
| 74 | 37 | F | L thalamus | Sporadic | PA | 2 | 3 | |||||
| 75 | 13 | F | Posterior fossa | Sporadic | PA | WT | 1 | 3 | Normal | 3 | ||
| 76 | 5 | F | Suprasellar | Sporadic | PA | WT | 0 | 1 | Dup | 2 | ||
| 77 | 12 | M | R thalamus | Sporadic | PA | 0 | 1 | Normal | 3 | |||
| 78 | 46 | F | Cerebellum | Sporadic | PA | WT | 1 | 0 | Dup | 2 | ||
| 79 | 18 | F | 3rd ventricle | Sporadic | PA | 3 | Normal | 3 | ||||
| 80 | 47 | F | Hypothalamus | Sporadic | PA | 1 | 0 | +7 | 3 | |||
| 81 | 4 | M | Cerebellum | Sporadic | PA | WT | 1 | 0 | Dup | 3 | ||
| 82 | 19 | M | 4th ventricle | Sporadic | PA | WT | 0 | 0 | Dup | 1 | ||
| 83 | 7 | M | Suprasellar | Sporadic | PA | WT | 0 | 1 | Normal | 3 | ||
| 84 | 11 | F | Posterior fossa | Sporadic | PA | WT | 1 | 0 | Dup | 3 | ||
| 85 | 3 | F | R optic nerve | NF1 | PA | 0 | 0 | 1 | ||||
| 86 | 2 | M | Suprasellar | Sporadic | PA | 2 | Dup | 3 | ||||
| 87 | 3 | F | Cerebellum | Sporadic | PA | WT | 0 | 0 | Dup | 2 | Normal | |
| 88 | 13 | M | R temporooccipital | NF1 | PA | WT | 1 | 3 | +7 | 3 | Normal | |
| 89 | 45 | F | Brainstem | NF1 | PA | 0 | 0 | 2 | ||||
| 90 | 3 | M | Cerebellum | Sporadic | PA | −1.7 | Normal | |||||
| 91 | 19 | M | 4th ventricle | Sporadic | PA | 3.66 | Dup | |||||
| 92 | 76 | F | Cerebellum | Sporadic | PA | −2.6 | Normal | |||||
| 93 | 40 | M | L temporal lobe | Sporadic | Control | WT | 1 | 0 | 0 | Normal | 0 | |
| 94 | 52 | M | L temporal lobe | Sporadic | Control | WT | 6.428604 | 0 | 0 | Normal | 0 | |
| 95 | 1 | F | Cerebellum | Sporadic | Control | WT | 0 | 1 | Normal | 0 |
NF1 neurofibromatosis type 1, Het del heterozygous deletions, HD homozygous deletions, WT wild type