Table 3. Tumor genomic abnormalities as detected by tissue versus ctDNA NGS testing.
Pt | DNA repair | Cell cycle regulation | PI3K | Epigenetics | Angiogenesis | |||||
---|---|---|---|---|---|---|---|---|---|---|
Tissue | ctDNA | Tissue | ctDNA | Tissue | ctDNA | Tissue | ctDNA | Tissue | ctDNA | |
1 | X | X | X | X | X | |||||
2 | X | X | X | X | X | X | X | |||
3 | X | X | X | |||||||
4 | X | X | X | |||||||
5 | X | X | ||||||||
6 | X | X | X | |||||||
7 | X | X | X | |||||||
8 | X | X | X | |||||||
9 | X | X | X | |||||||
10 | X | X | ||||||||
11 | X | X | X | |||||||
12 | X | X | X | X | X | |||||
13 | X | X | X | X | ||||||
14 | X | X | X | |||||||
15 | X | |||||||||
16 | X | X | ||||||||
17 | X | X | X | X | X | |||||
18 | X | X | X | |||||||
19 | X | X | X | |||||||
TOTAL | 12 | 0 | 12 | 7 | 8 | 2 | 10 | 0 | 8 | 4 |
P VAL | 0.0001 | 0.19 | 0.06 | 0.0004 | 0.30 |
Legend:
DNA repair includes: BAP1, POLE, FANCD2, EMSY, FANCF, POLD1, BARD1, PMS2, BRCA1, BRCA2, PALB2.
Cell cycle regulation: BTG1, CCND1, CCND2, CCND3, CDKN2A, CDKN2B, CCNE1, TP53.
PI3K: PREX2, RICTOR, PIK3CA, RPTOR, PTEN.
Epigenetics: MLL2, SETD2, DOT1L, CHD2, KDM6A, DNMT2A.
Angiogenesis: VHL, FLT4.
Genes tested by ctDNA are underlined. All genes were tested by tissue NGS.