Table 2.
Comparison of Genomic Alterations Detected in Tissue and CSF ctDNA
| ID | Primary tumor | Tissue analyzed | Tissue alterations | CSF ctDNA alterations |
|---|---|---|---|---|
| 14∗ | Breast | Breast |
FBXW7 p.R505C CTNNB1 p.S45F HRAS p. G12C ERBB2 p.R896C |
FBXW7 p.R505C |
| 16 | Breast | Breast | ERBB2 ↑ | ERBB2 ↑ |
| 17∗ | Breast | Pericardium | ESR1 p.D538G |
ESR1 p.D538G MAP2K1 p.F129L MYC ↑ CCND1 ↑ |
| 22∗ | Lung | Brain |
TP53 p.V157F MYC ↑ |
FBXW7 p.R505C TP53 p.V157F MYC ↑ |
| 23 | Breast | Breast | ERBB2 ↑ | ERBB2 ↑ |
| 27 | Breast | Bone marrow | TP53 p.P48R |
PIK3CA p.H1047R TP53 p.P48R |
| 28 | Lung | Lung |
EGFR p.S768I EGFR p.L858R EGFR p.T790M |
EGFR p.S768I EGFR p.L858R |
| 33∗ | Lung | Brain |
KIT p.T500_S501insSA TP53 p.C176R |
TP53 p.C176R |
Bold entries in Table indicate genetic variations showing concordance between tissue and CSF ctDNA.
↑, gene amplification.
CSF, cerebrospinal fluid; ctDNA, circulating tumor DNA.
∗
Tissue sample sequenced with the Oncomine Pancancer Assay. ERBB2 amplification in the tissue was detected by fluorescence in situ hybridization.