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Table 1 Genomic alterations in BRAF V600E-negative anaplastic pleomorphic xanthoastrocytoma

From: BRAF activating mutations involving the β3-αC loop in 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
  1. WES whole exome sequencing, aCGH array comparative genomic hybridization, NGS targeted next-generation sequencing, IHC immunohistochemistry, FISH fluorescence in situ hybridization, WGS whole genome sequencingm, HD homozygous deletion, PM promoter methylation, GTR gross total resection, f/u follow-up, PFS progression-free survival, STR stereotactic radiotherapy, TMZ temozolomide
  2. asee Supplemental Material for reference citations
  3. boverlapping cases
  4. ccases initially diagnosed as epithelioid glioblastoma but clustered with PXA with methylome analysis