Table 2.
Alteration | PA-A | PA precursor |
---|---|---|
ALT | 25/36 (69%) | 9/14 |
ATRX (IHC) loss | 20/35 (57%) | 7/11 |
IDH1 (R132H) | 0/32 (0%) | NA |
BRAF duplication | 8/26 (31%) | 8/14 |
BRAF (V600E) | 0/31 (0%)* | NA |
NF1 status | 12/36 (33%)# | 3/19 |
H3-K27M | 5/32 (16%) | 2/14 |
CDKN2A | 3/18 (17%)& | NA |
P53 (strong IHC) | 6/17 (35%) | NA |
ALT=alternative lengthening of telomeres, NF1=neurofibromatosis type 1
a single case had an activating mutation in BRAF (non V600E) by sequencing (BRAF p.D594G).
A total of 8 patients satisfied clinical criteria for NF1 while four additional patients demonstrated NF1 mutations in their tumors by sequencing studies.
A total of 3 patients had homozygous deletion as tested by FISH (n=12), NGS (n=6), or both (n=1).