Table 3.
Genomic alterations detected in patient and corresponding PDX by next generation sequencing using the OCCRA gene panel (Lorentzian et al., 2019)
| Disease Type | Sample Origin | OCCRA panel NGS | |
|---|---|---|---|
| 1 | B-ALL Dx | Primary | |
| B-02-Dx | ETV6-RUNX1 fusion | ||
| SNV: SUZ12 lys690fs, 0.03 | |||
| PDX | |||
| B-02-Dx-PDXb | ETV6-RUNX1 fusion | ||
| CNV: SOCS2 (0.83), TET2 (0.97) | |||
| 2 | B-ALL R1 | Primary | |
| B-05-R1 | SNV: ARID1A (Gln563Ter, 0.33), KRAS (Lys117Arg, 0.35) | ||
| PDX | |||
| B-05-R1-PDX | SNV: ARID1A Gln563Ter (0.49), KRAS Lys117Arg( 0.52) | ||
| CNV: FASLG (3.67), CDKN2A (0.85), CDKN2B (0.96) | |||
| 3 | B-ALL R3 | Primary | |
| B-06-R3 | SNV: JAK1 (Val658Phe, 0.48) | ||
| CNV: CDKN2A (0.07), CDKN2B (0.07), PTCH1(0.79), EBF1(1.0) | |||
| PDX | |||
| B-06-R3-PDXb | SNV: JAK1 (Val658Phe, 0.99) | ||
| CNV: CDKN2A (0), CDKN2B (0), PTCH1 (0.76), EBF1 (1.0) | |||
| 4 | B-ALL R3 | Primary | |
| B-07-R3 | SNV: KRAS Gln61His (0.13) | ||
| CNV: CDKN2A (0.52), RB1 (0.85), P53 (1.37) | |||
| PDX | |||
| B-07-R3-PDXa | SNV: KRAS Gln61His (0.4) | ||
| CNV: CDKN2A (0.33), RB1 (0.22), P53 (1.1) | |||
| 5 | T-ALL Dx | Primary | |
| T-02-Dx | STIL-TAL1 fusion | ||
| SNV: PTEN (Leu247fs, 0.2) | |||
| PDX | |||
| T-02-Dx-PDX | STIL-TAL1 fusion | ||
| 6 | T-ALL Dx | Primary | |
| T-01-Dx | CNV: CDKN2A (0.6) | ||
| PDX | |||
| T-01-Dx-PDX | CNV: CDKN2A (0.03) |