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Table 1 Biological Specimens Evaluated for H3 Mutation

From: Detection of Histone H3 mutations in cerebrospinal fluid-derived tumor DNA from children with diffuse midline glioma

  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
  1. Cerebrospinal fluid (CSF) collected from children with brain tumors (n = 11), and shunted congenital hydrocephalus with no brain tumor history (n = 1), was evaluated for H3 mutation via H3F3A (H3.3) and HIST1H3B (H3.1) sequencing. All CSF specimens were derived from the lateral ventricle via an implanted CSF reservoir (R), shunt (S), or external ventricular drain (EVD). Available matched tumor tissue (n = 8) was analyzed via Sanger sequencing and/or tissue immunohistochemical staining in order to validate CSF sequencing results. KEY: * = first detection of K27M mutation; ^ = validation of K27M mutation; WT = wild type