Table 5.

Individual Patient Tumor Molecular Profiling Results, and Clinical Features, for Patients Who Had Testing Performed at Biopsy or Autopsy Allowing Evaluation of Alterations Relevant to the Cell Cycle or PI3K/mTOR Pathways

Patient Age at Diagnosis (years)	Diagnosis	H3K27 Mutation Status	Tissue Source of Molecular Profiling (Biopsy and/or Autopsy)	Molecular Testing Performed	Molecular Profiling Results, Relevant to Cell Cycle, and PI3K/mTOR Pathways	Additional Alterations	Overall Survival (months)	Event-free Survival (months) for Patients With HGG	Number of Cycles	Post-study Re-irradiation	Post-study additional systemic therapy
HGG
10	HGG	Wildtype	Biopsy	Targeted sequencing	CDKN2A/B deletion	TP53 mutation, wildtype for IDH and BRAFV600	20	12	9	Yes	Yes, details not known
11	HGG	H3K27M-mutant	Biopsy	Targeted sequencing	PTEN deletion (heterozygous)	Wildtype for IDH and BRAFV600	11	9	6	No	Not known
12	HGG	Wildtype	Biopsy	Targeted sequencing	CDK4 amplification	TP53 mutation, wildtype for IDH and BRAFV600	>37a	>18	17	No	Yes, ribociclib and everolimus off-trial (came off study treatment due to non-compliance); temozolomide
DIPG
2	DIPG	H3K27M-mutant (H3.3 [H3F3A]]	Biopsy	Targeted sequencing	No relevant alterations identifiedc	N/A	>39a		>40b	N/A	N/A
5	DIPG	H3K27M-mutant	Biopsy	Targeted sequencing	No relevant alterations identifiedc	MLL2 R185H mutation	13		6	Yes	No
7	DIPG	H3K27M-mutant (H3.3 [H3F3A]]	Autopsy	Whole exome and RNA sequencing	No relevant alterations identifiedc	TP53 mutation	9		4	No	Yes, bevacizumab
10	DIPG	H3K27M-mutant (H3.3 [H3F3A]]	Autopsy	Whole exome and RNA sequencing	PIK3R1 mutation	TP53 mutation	10		5	No	Yes, vorinostat
15	DIPG	H3K27M-mutant	Biopsy	Targeted sequencing	No relevant alterations identifiedc	TP53 mutation, PDGFRA/KIT amplification	>21a		1	Yes	Yes, intraventricular radioimmunotherapy with omburtamab, avastin, etoposide, and “anti-neoplastins”

^aPatient is alive at the time of data capture for manuscript submission.

^bPatient remains on active therapy at the time of data capture for manuscript submission.

^cNo genetic alterations involving cell cycle (CDK4/6, CDKN2A/B) or PI3K/mTOR (PIK3R1, PIK3CA, PTEN) pathways were identified, based on available results from molecular testing performed. Note that molecular profiling assays were variable across patients and often focused targeted sequencing panels, most commonly by Foundation Medicine.