Table 1. B-ALL patient sample information.
Patient ID | Fusion gene and other genetic abnormality | BCR sequence pattern in diagnostic sample | BCR sequence pattern in relapse or MRD sample | Disease status | BCR sequencing template |
---|---|---|---|---|---|
527a | E2A-PBX1 | Monoclonal expansion | Original clone (low level) | No relapse | RNA |
859a | ETV6-RUNX1 | Biclonal expansionb (with secondary rearrangements) | Original clone (low level) | No relapse | RNA |
1592a | E2A-PBX1 | Monoclonal expansion | Non-clonal | No relapse | RNA |
1611a | E2A-PBX1 | Monoclonal expansion | Non-clonal | No relapse | RNAc |
1703a | ETV6-RUNX1 | Monoclonal expansionb | Monoclonal expansion (novel clone) | CNS relapse (+ low-level BM) | RNAc |
3243a | BCR-ABL | Monoclonal expansion | Non-clonal | No relapse | RNA |
Patient Ad | ETV6-RUNX1 | Monoclonal expansion | Monoclonal expansion (diagnostic clone) | BM relapse | DNA |
Patient Bd | Additional RUNX1 | Biclonal expansion | Monoclonal expansion (of one of diagnostic clones) | BM relapse | DNA |
Patient Cd | ETV6-RUNX1 | Biclonal expansione | Biclonal expansion (two diagnostic clones)e | BM relapse | DNA |
Patient Dd | TCF3 rearrangement | Monoclonal expansion | Monoclonal expansion (diagnostic clone) | BM relapse | DNA |
Patient Ed | ETV6-RUNX1 | Biclonal expansion | Monoclonal expansion (diagnostic clone) | BM relapse | DNA |
Patient Fd | ETV6-RUNX1 | Monoclonal expansion | Biclonal expansion (with diagnostic clones) | Combined relapse | DNA |
Patient Gd | ETV6-RUNX1; -X; abn. Chr 3,4,7,12,15 | Biclonal expansion | Monoclonal expansion (novel clone) | Combined relapse | DNA |
Patient Hd | ETV6-RUNX1, loss of one CDKN2A and one MLL signal | Polyclonal expansion | Non-clonal | CNS only relapse | DNA |
Patient Id | Bi-allelic CDKN2A deletion | Polyclonal expansion | Monoclonal expansion (of one of diagnostic clones) | BM relapse (+low-level CNS) | DNA |
Abbreviations: B-ALL, B-cell acute lymphoblastic leukemia; BCR, B-cell receptor; BM, bone marrow; CNS, central nervous system; MRD, minimal residual disease.
Treated under the UKALL XI protocol.55
The 'diagnostic' samples from patients 859 and 1703 were taken after treatment had commenced.
DNA samples were also available from these samples (see Supplementary Figure S2).
Treated under the UKALL2003 protocol.55
Likely to represent bi-allelic VDJ rearrangements in the transformed B cell.