Table 2:

Summary of molecular pathology profiling through the Oncomine Comprehensive Assay across 5 samples in the de novo cohort as well as 6 samples from secondary-progressive cohorta

De Novo (D.N.)/Secondary Progressive (S.P.)Pathogenic VariantsVariants of Unknown SignificanceWHO Grade at Time of Analysis
S.P.

  1. CDKN2A loss

  2. CDKN2B loss

  3. FANCG splice site deletion

  4. MTAP loss

  5. TP53 V31L

–3
S.P.

  1. ARID1 frameshift alteration

  2. FBXW7 frameshift deletion

  1. TSC2 in frame insertion

  2. CDH1 missense

3
S.P.

  1. NF2 nonsense

  2. CDKN2A deletion

–3
S.P.

  1. MSH2 nonsense

  2. TP53 nonsense

  3. PTEN frameshift deletion

  4. GNAS missense

–2
S.P.–

  1. PIK3R1 missense

  2. TSC1 missense

  3. NOTCH1 missense

  4. NF2 missense

2
S.P.

  1. NF2 splice site

  2. CDKN2A deletion

–1
D.N.

  1. BRCA2 frameshift deletion

  2. NF2 nonsense

  1. BRCA2 missense

3
D.N.–

  1. CCND1 amplification

  2. RPS6KB1 amplification

3
D.N.–

  1. ATM missense

3
D.N.––3
D.N.––3

  • Note:—The en dash indicates no mutations found.

  • ↵a Notably, the 6 samples from the secondary-progressive cohort included 1 sample that was WHO grade 1, two samples that were WHO grade 2, and 3 samples that were WHO grade 3 at the time of genetic analysis. Mutations were stratified by clinical significance and categorized as either pathogenic or variants of unknown significance. TERT promoter mutations were not included in this panel.