Table 1 Biological Specimens Evaluated for H3 Mutation
Patient Information | CSF Collection | Carrier | CSF DNA yield (ngDNA/μLCSF) | CSF DNA Analysis | Tissue DNA Analysis | CSF & Tissue analyses concordance on H3.3K27M status | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ID | Histologic Diagnosis | Source | Time of Acquisition | yRNA | LPA | H3.3 Sanger Seq | H3.3 Mutation-Specific PCR | H3.1 Sanger Seq | IHC | H3.3 Sanger Seq | |||
Expected to harbor K27M | 1 | DIPG | R | At Reservoir Placement | – | Y | 0.01 | – | K27M* | – | Tissue Not Available | – | |
2 | DIPG | R | Reservoir Tap During Treatment | Y | Y | 0.05 | K27M* | K27M^ | – | Tissue Not Available | K27M^ | Y | |
3 | DIPG | R | Reservoir Tap During Treatment | – | Y | 0.28 | WT | WT | WT | Tissue Not Available | – | ||
4 | DIPG | EVD | At Tumor Biopsy | – | Y | 0.09 | K27M* | K27M^ | – | K27M* | K27M^ | Y | |
5 | Thalamic Anaplastic Astrocytoma | EVD | At Tumor Biopsy | – | Y | 0.03 | – | K27M* | – | K27M^ | – | Y | |
6 | Thalamic Anaplastic Astrocytoma | R | At Reservoir Placement | – | Y | 0.02 | Insufificient DNA | Insufificient DNA | Insufificient DNA | WT | – | – | |
Not Expected to harbor K27M | 7 | Thalamic Pilocytic Astrocytoma | R | At Reservoir Placement | – | Y | 0.14 | WT | – | Insufificient DNA | Tissue Not Available | – | |
8 | Supratentorial Glioblastoma | R | At Reservoir Placement | Y | Y | 1.28 | G34V | – | – | WT | – | Y | |
9 | Cerebellar Juvenille Pilocytic Astrocytoma | EVD | At Tumor Resection | – | Y | 0.40 | WT | – | Insufificient DNA | WT | – | Y | |
10 | Right Lateral Ventricular Choroid Plexus Papilloma | EVD | At Tumor Resection | Y | Y | 3.76 | WT | – | WT | WT | WT | Y | |
11 | Medulloblastoma with 4th Ventricular Extension | EVD | At Tumor Resection | Y | Y | 0.80 | WT | – | Insufificient DNA | WT | WT | Y | |
Control | 12 | Congenital hydrocephalus | S | Shunt Tap During Treatment | – | Y | 0.04 | – | WT | – | – | – | – |