TABLE 1.
Patient data a with specification of tumors and cfDNA content in CSF.
| # | Age of onset | Gender | Integrated diagnosis b | Tumor volume, cm3 c | Time of CSF collection | CSF collection procedure | CSF sample volume, ml | 37 bp fragment concentration, copies/µl | 150 bp fragment concentration, copies/µl | 300 bp fragment concentration, copies/µl | H3 K27M in tumor tissue | H3 K27M in CSF |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 5 months | Female | Infant-type hemispheric glioma, ETV6-NTRK3-positive | 345 | Primary | VAD | 3 | 16,793 | 15,170 | 8,583 | - | - |
| 2 | 3 months | Female | Atypical teratoid/rhabdoid tumor, SMARCB1-mutant | 99.5 | During therapy | VAD | 2.4 | 2,972 | 1,486 | 546 | - | - |
| 3 | 2 years 10 months | Male | Atypical teratoid/rhabdoid tumor, NOS | 9.5 | During therapy | VAD | 2.8 | 676 | 417 | 306 | - | - |
| 4 | 1 year 11 months | Female | Anaplastic medulloblastoma, non-WNT/non-SHH | 12.2 | During therapy | VAD | 4 | 361 | 122 | 101 | - | - |
| 5 | 5 years 5 months | Male | Desmoplastic medulloblastoma, SHH-activated, TP53-wildtype, PTCH1-mutant | 0.44 | Metastatic relapse | VAD | 2.5 | 53 | 35 | 20 | - | - |
| 6 | 11 years 5 months | Male | Medulloblastoma, non-WNT/non-SHH | 26.3 | Primary | IO | 2 | 0 | 0 | 0 | - | NA |
| 7 | 5 years 2 months | Male | Posterior fossa ependymoma, group PFA | 2.2 | Local relapse | IO | 4 | 973 | 683 | 669 | - | - |
| 8 | 10 years 8 months | Male | Diffuse pediatric-type high-grade glioma, H3-wildtype, and IDH-wildtype | 140 | Primary | IO | 4 | 64 | 47 | 142 | - | - |
| 9 | 11 years 11 months | Female | Diffuse midline glioma, H3 K27-altered | 37.4 | After surgery | LP | 3 | 16 | 10 | 0 | + | + |
| 10 | 5 years 1 month | Male | Diffuse midline glioma, H3 K27-altered | 16 | Primary | LP | 2 | 1 | 3 | 4 | + | ? |
| 11 | 5 years 7 months | Male | Diffuse midline glioma, H3 K27-altered | 14 | Primary | IO | 13.3 | 66 | 108 | 87 | + | + |
| 320 | 165 | 137 | ||||||||||
| LP | 1 | 4 | 7 | 3 | ? | |||||||
| 12 | 11 years 2 months | Male | Diffuse midline glioma, H3 K27-altered | 87 | Primary | IO | 10 | 27 | 14 | 6 | + | + |
| 19 | 8 | 9 | ||||||||||
| 13 | 6 years 9 months | Male | Optic chiasm pilocytic astrocytoma, NOS | 10 | Primary | VAD | 5 | 106 | 81 | 51 | NA | - |
| 14 | 1 month | Male | Pilocytic astrocytoma, KIAA1549 (exon 15)—BRAF (exon 9)—positive | 134 | During therapy | VAD | 4.8 | 387 | 108 | 67 | - | - |
| 15 | 7 years 3 months | Male | Pilocytic astrocytoma, KIAA1549 (exon 16)—BRAF (exon 9)—positive | 2.9 | Primary | LP | 3.5 | 0 | 0 | 0 | — | NA |
| 16 | 9 months | Female | Pilocytic astrocytoma, KIAA1549 (exon 15)—BRAF (exon 9)—positive | 74 | Local relapse | IO | 1.2 | 0 | 0 | 0 | — | NA |
| 17 | 8 years 8 months | Female | Histologically unverified bilateral thalamic tumor with midbrain extension (suspected high-grade glioma) | 142 | Primary | VAD | 2 | 9 | 6 | 0 | NA | - |
| 18 | 4 years 10 months | Female | Histologically unverified tumor of the right cerebral peduncle and basal ganglia on the right (suspected low-grade glioma) | 16.4 | Primary | LP | 2 | 2 | 0 | 0 | NA | NA |
Sorted roughly by morphological assignment.
Based on the 2021 WHO Classification of Tumors of the Central Nervous System [15].
Tumor volume at the time of CSF collection.
NA, no data available; VAD, ventricular access device; IO, intraoperatively; LP, lumbar puncture.