Table 2.
Description of somatic mutations observed in diagnosis–relapse BCP-ALL patients. All three TP53 mutations retained at relapse increased their mutational burden to relapse (c.818G > C from 3.5% to 26%, c.832C > T from 11% to 21% and 817_821delinsGACCC from 53% to 71%).
| Patient ID | Gene | Type of Mutation | Mutation | AA Change | Database | Moment | Mutational Burden |
|---|---|---|---|---|---|---|---|
| ID2 | TP53-E08 | Indel | c.817_821delinsGACCC | p.R273_V274delinsDP | Undescribed | Diagnosis | 53% |
| Relapse | 71% | ||||||
| ID4 | TP53-E08 | Missense | c.832C > T | p.P278S | COSM10939/TP53 website http://p53.fr/ | Diagnosis | 11% |
| Relapse | 21% | ||||||
| ID7 | PAX5-E03 | Missense | c.399T > A | p.S133R | Undescribed | Diagnosis only | 20% |
| TP53-E08 | Missense | c.818G > C | p.R273P | COSM165077/TP53 website http://p53.fr | Diagnosis | 3.5% | |
| Relapse | 26% | ||||||
| TP53-E05 | Splicing | c.-8_4del12 | Splice_Intron 5 SA | TP53 website http://p53.fr | Relapse only | 15% | |
| ID3 | TP53-E05 | Missense | c.829_842delins14 | p.C277_D281delinsGPQG | Undescribed | Relapse only | 90% |