Table 1. Somatic mutations and chromosomal aberrations in known cancer genes in leukemia cells from the TCF3-PBX1 BCP-ALL index patient.
| Gene | Mutation type |
Mutant variant allele frequency |
||
|---|---|---|---|---|
| Diagnosis | Relapse (668_1) | Relapse (668_4) | ||
| PHF6 | p.Q121* | 86% | 92% | 84% |
| MTOR | p.M1724_Q1725insV | 47% | 46% | 42% |
| TP53 | p.R273_V274insAGP | 0% | 47% | 60% |
| TP53 | p.R283_T284insR | 0% | 0% | 16% |
| Translocation and CNAs | ||||
| TCF3-PBX1 | t(1;19)(q23;p13) | x | x | x |
| CDKN2A | i(9q) Heterozygous deletion | x | x | x |
| CDKN2A | Homozygous deletion | x | ||
| PAX5 | i(9q) Heterozygous deletion | x | x | x |
| TBL1XR1 | Heterozygous deletion | x | x | |
| TP53 | Subclonal deletion | x | ||
Abbreviations: BCP-ALL, B-cell precursor acute lymphoblastic leukemia; CNA, copy number aberration.