Table 1.
Characteristics of Patients and Samples
| Sample no. | Age, years | Sex | Volume, mL | Total yield, ng | Primary site | CSF cytology | MRI | Parenchymal metastases | LMD | ctDNA genetic alterations (AF% or CNV ratio) |
|---|---|---|---|---|---|---|---|---|---|---|
| 1† | 48 | F | 1.8 | 9.5 | Brain‡ | Negative | Positive | Yes | No | None detected |
| 2 | 61 | M | 3 | 11.45 | Brain‡ | Negative | Positive | Yes | No | None detected |
| 3† | 54 | M | 2.3 | 16.5 | Brain‡ | Negative | Positive | Yes | No | None detected |
| 4† | 45 | M | 2.7 | 113.5 | Brain‡ | N/A | Positive | Yes | No | None detected |
| 5† | 69 | M | 1.5 | 13.5 | Brain‡ | Negative | Positive | Yes | No | None detected |
| 6 | 72 | F | 2.4 | 11.9 | Brain‡ | Negative | Negative | No | No | None detected |
| 7 | 53 | F | 3 | 14.85 | Brain§ | Positive | Positive | Yes | Yes | None detected |
| 8† | 44 | M | 1 | 11.25 | Brain¶ | Negative | Positive | Yes | No | None detected |
| 9 | 24 | M | 1.3 | 9 | Brain‖ | Negative | Positive | Yes | No | None detected |
| 10 | 19 | M | 2.5 | 110 | Brain¶ | Negative | Positive | Yes | No | None detected |
| 11 | 73 | F | 2.5 | 12.3 | Breast | Positive | Positive | No | Yes |
PIK3CA p.H1047R (15.2%) FGFR3 p.F384L (31.8%) FGFR2 p.Y375C (6.8%) |
| 12 | 71 | F | 4.9 | 8.45 | Breast | Positive | Positive | No | Yes | AKT1 p.E17K (31.8%) |
| 13 | 52 | F | N/A | 3.63 | Breast | Negative | Negative | No | No | None detected |
| 14 | 54 | F | 3 | 4.35 | Breast | Negative | Positive | Yes | Yes | FBXW7 p.R505C (7.9%) |
| 15 | 35 | F | 1.1 | 16.6 | Breast | Positive | Positive | No | No | None detected |
| 16 | 59 | F | 1 | 22.8 | Breast | Negative | Positive | No | Yes | ERBB2 ↑ (2.88) |
| 17 | 43 | F | N/A | 38.45 | Breast | Positive | Positive | No | Yes |
ESR1 p.D538G (78.5%) MAP2K1 p.F129L (0.38%) MYC ↑ (3.9) CCND1 ↑ (5.8) |
| 18 | 54 | F | 0.7 | 33 | Breast | Negative | Positive | Yes | Yes | None detected |
| 19 | 71 | F | 2 | 4.4 | Breast | Positive | Positive | No | Yes | AKT1 p.E17K (15.4%) |
| 20 | 71 | F | 3 | 8.4 | Breast | Negative | Positive | Yes | Yes | None detected |
| 21 | 59 | F | 3.6 | 42.25 | Breast | Negative | Positive | No | Yes | None detected |
| 22 | 44 | F | 4 | 24.6 | Breast | Negative | Positive | N/A | N/A |
TP53 p.V157F (2.8%) MYC ↑ (1.8) |
| 23 | 54 | F | 4 | 102 | Breast | Negative | Positive | Yes | Yes |
TP53 p.H193R (75.7%) ERBB2 ↑ (11.61) |
| 24 | 47 | F | 3 | 19.9 | Breast | Positive | Positive | Yes | Yes | TP53 p.R196∗ (50.5%) |
| 25 | 42 | F | 2.7 | 5.6 | Breast | Atypical | Negative | No | Yes | None detected |
| 26 | 71 | F | 4 | 48.25 | Breast | Positive | Positive | No | Yes |
AKT1 p.E17K (27.7%) CCND1 ↑ (1.96) |
| 27 | 51 | F | 4 | 73.5 | Breast | Positive | Positive | No | Yes | PIK3CA p.H1047R (24.0%) |
| 28 | 54 | F | 2.8 | 7.25 | Lung | Negative | Positive | Yes | Yes |
EGFR p.S768I (14.5%) EGFR p.L858R (11.9%) |
| 29 | 66 | M | 4 | 88 | Lung | Negative | Negative | No | No | None detected |
| 30 | 56 | F | 2 | 9.85 | Lung | Negative | Positive | No | Yes | None detected |
| 31† | 54 | M | 3 | 62.5 | Lung | N/A | Positive | Yes | Yes | None detected |
| 32† | 65 | M | 2.4 | 421.5 | Lung | Negative | Positive | Yes | No | TP53 p.G245C (21.6%) |
| 33† | 58 | F | 2.1 | 3120 | Lung | N/A | Positive | Yes | No | TP53 p.C176R (73.1%) |
| 34 | 65 | M | 3 | 36.4 | Lung | Negative | Positive | Yes | No | None detected |
| 35 | 53 | F | 3 | 10.95 | Lung | Negative | Positive | Yes | No | None detected |
| 36 | 47 | F | 3.1 | 104 | Melanoma | Negative | Positive | No | No | None detected |
| 37 | 64 | F | 3 | 4.95 | Ovary | Negative | Positive | Yes | Yes | None detected |
| 38 | 66 | F | 2.8 | 25 | Uterine | Positive | Positive | Yes | Yes | TP53 p.V272M (1.4%) |
| Sample no. | Volume, mL | Total yield, ng | Diagnosis | Parenchymal metastases | LMD |
|---|---|---|---|---|---|
| C1 | 1.43 | 71.5 | Hydrocephalus | No | No |
| C2 | 1.55 | 77.5 | Hydrocephalus | No | No |
| C3 | 1.73 | 86.5 | Hydrocephalus | No | No |
| C4 | 0.516 | 25.8 | Hydrocephalus | No | No |
| C5 | 0.343 | 17.15 | Hydrocephalus | No | No |
| C6 | 0.736 | 36.8 | Hydrocephalus | No | No |
| C7 | 1.19 | 59.5 | Hydrocephalus | No | No |
| C8 | 5.3 | 265 | Chiari malformation | No | No |
| C9 | 1.64 | 82 | Chiari malformation | No | No |
| C10 | 3.16 | 158 | Hydrocephalus | No | No |
↑, gene amplification; MAF%, Mutant Allele Frequency; CNV ratio, copy number ratio; CSF, cerebrospinal fluid; LMD, leptomeningeal disease; MRI, magnetic resonance imaging; N/A, cannot be evaluated.
†
Sample was collected before treatment.
‡
Six glioblastomas.
§
Two ependymomas/grade II.
¶
One supratentorial primitive neuroectodermal tumor.
‖
One subependymal giant cell astrocytoma/grade I.