Table 1.
Patient Demographics
| Sample ID (UMPED #) | Age (years) | Gender | Clinical/Radiographic Diagnosis | Histopathological Diagnosis | Tumor Genomics | Therapies | Time(s) of Tissue Samples | Time(s) of CSF Samples | Location of CSF Samples | Overall Survival (From Diagnosis) |
|---|---|---|---|---|---|---|---|---|---|---|
| UMPED18 | 8 | Male | DIPG | Diffuse midline glioma, H3K27M- mutant | H3F3A K27M, PIK3CA E545K | Radiation + AZD1775, everolimus + panobinostat | 1 month | At autopsy | Lumbar Puncture | 9 months |
| UMPED22 | 4 | Male | DIPG | Diffuse midline glioma, H3K27M-mutant | ACVR1 G328E, HIST1H3B K27M, TP53 R213* | Radiation, bevacizumab | 2 weeks | At autopsy | Cisterna Magna | 12 months |
| UMPED24 | 3 | Female | DIPG | Diffuse midline glioma, H3K27M-mutant | H3F3A K27M, PTPN11 T468P | Radiation, bevacizumab, trametinib | 11 days | At diagnosis | Lumbar Puncture | 14 months |
| UMPED25 | 14 | Male | DIPG | Diffuse midline glioma, H3K27M-mutant | FGFR3 K650E, H3F3A K27M | Radiation, ponatinib, re-irradiation, bevacizumab , panobinostat, pazopanib + everolimus | At diagnosis | At diagnosis | Ventricular | 20 months |
| UMPED37 | 13 | Male | Thalamic HGG | Diffuse midline glioma, H3K27M-wildtype | Diagnosis: EGFR V292L, EGFR T483_G485del; Autopsy: TP53 H214R, EGFR V292L, EGFR T483_G485del | Chemotherapy (TPCV), radiation, osimertinib | At diagnosis; at autopsy | At autopsy | Ventricular | 17 months |
| UMPED39 | 9 | Male | DIPG (secondary to medulloblastoma) | Diffuse midline glioma, H3K27M-wildtype | PIK3CA G106V, PIK3CA R88Q, PIK3CA H1065L | Radiation, everolimus, LY3023414 | At diagnosis | At autopsy | Cisterna Magna | 11 months |
| UMPED55 | 8 | Female | DIPG | Not biopsied at diagnosis | Radiation, bevacizumab, ONC201 | At time of death | Lumbar Puncture | 9 months | ||
| UMPED57 | 9 | Female | DIPG | Diffuse midline glioma, H3K27M-mutant | H3F3A K27M, PPM1D E525* | Radiation, ONC201 | At diagnosis | At autopsy | Lumbar Puncture | 8 months |
| UMPED58 | 9 | Male | DIPG | Diffuse midline glioma, H3K27M-mutant | ATRX Q119*, H3F3A K27M | Radiation, bevacizumab, intra-arterial therapy (multiple compounds, unknown regimen) | 1 week | At autopsy | Lumbar Puncture | 21 months |
| UMPED60 | 17 | Female | Thalamic HGG | Diffuse midline glioma, H3K27M-mutant | H3F3A K27M, PIK3CA E545G, TP53 R158G, TP53 R248Q | Radiation + temozolomide, bevacizumab , ONC201 | At diagnosis | 0, 2, and 6 months on ONC201 | Lumbar Puncture | 22 months and ongoing |
| UMPED62 | 13 | Male | Spinal cord HGG | Diffuse midline glioma, H3K27M-mutant | ATRX I2248fs, FGFR1 N546K, H3F3A K27M, H3F3A G35W, PPM1D W427*, PTPN11 E69K | Temozolomide + irinotecan; subtotal resection, radiation, bevacizumab, ONC201 | At progression | At progression | Lumbar Puncture | 19 months from progression |
| UMPED77 | 13 | Male | Thalamic HGG | Diffuse midline glioma, H3K27M-mutant | H3F3A K27M by IHC | Radiation + temozolomide, bevacizumab , ONC201 | At diagnosis | 0, 2, and 6 months on ONC201 | Lumbar Puncture | 14 months and ongoing |
The table gives patient demographics for NGS-sequenced tumors including tumor type and H3K27M status, all tumor-driving or clinically actionable mutations determined at diagnosis and explored via Nanopore analysis, therapies each patient received prior to or during the study, and timing and location of sample collection. Two patients did not have surgical biopsy but provided CSF for analysis at time of death.
Abbreviations: DIPG = diffuse intrinsic pontine glioma,
*
= stop codon mutation, del = deletion mutation, fs = frameshift mutation, HGG = high-grade glioma, TPCV= temozolomide, procarbazine, CCNU, vincristine