Table 1 Genomic alterations in BRAF V600E-negative anaplastic pleomorphic xanthoastrocytoma
| Referencea | Number of cases | Method | Alteration (s) (cases/total tested) | Clinical outcome (s) |
|---|---|---|---|---|
| Mistry et al., 2015 | 3 | WES, aCGH | CDKN2A HD (1/3) TP53 mutation (1/2) | No individual case data available |
| Phillips et al., 2016 | 2 | NGS |
Case 1: NRF1-BRAF (1/2) Case 2: ATG7-RAF1 (1/2) CDKN2A HD (2/2) |
Case 1: GTR with recurrence, f/u 48 months, deceased Case 2: GTR with recurrence, f/u 15 months, alive |
| Alexandrescu et al., 2016 | 1b | FISH, methylation analysis (450 k) |
CDKN2A HD Gains: + 5, 7, 9q, 12p, 14q, 16q, 22q Losses: −1, 6, 13q, 14q, 21q | GTR, no recurrence, f/u 10 months, alive |
| Hsiao et al., 2017 | 1 | WES, transcriptome | TMEM106B-BRAF | Resection, PFS 6 months, field radiation, contralateral recurrence, STR, progression, chemo with TMZ, stable and alive |
| Vaubel et al., 2017 | 6 | Chromosomal microarray (OncoScan) |
Gains: + 7 (3/6), + 5 (2/6) Losses: −22 (4/6), −14 (4/6), − 13 (3/6), − 10 (3/6), −1p (chromothripsis) CDKN2A HD (5/6) | No individual case data available |
| Korshunov et al., 2017 | 20 b,c | Methylation analysis (450 k), targeted sequencing | TERT c.-124C > T (5/20); CDKN2A HD (8/20) | No individual case data available |
| Current study | 2 | WES, WGS, transcriptome |
Case 1: BRAF p.L485_P490delinsF; FOXO1 p.A38T; HTR2A p.D48N; CDKN2A HD Case 2: BRAF p.V504_R506dup; KAT6A p.T1210 fs (subclonal) Gains (case 2): + 5, 6, 7, 10, 12, 15 Losses (case 1): −9, 22 |
Case 1: near-GTR, A9952 (carboplatin, vincristine), f/u 6 months, alive Case 2: subtotal resection, chemoradiation with TMZ, alive at last f/u 4 months post-dx |
