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. 2016 Jun 17;30(12):2312–2321. doi: 10.1038/leu.2016.142

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.

a

Treated under the UKALL XI protocol.55

b

The 'diagnostic' samples from patients 859 and 1703 were taken after treatment had commenced.

c

DNA samples were also available from these samples (see Supplementary Figure S2).

d

Treated under the UKALL2003 protocol.55

e

Likely to represent bi-allelic VDJ rearrangements in the transformed B cell.