Fig. 2

Characterization of additional abnormalities identified. a, b MLPA profile of matched sample of case described using the P335 ALL SALSA MLPA kit at diagnosis and relapse sample, respectively. c 3’RACE-PCR PAX5 and sequencing of truncated PAX5 after 3’RACE-PCR with diagnosis sample. M, marker (1 kb); N, negative control; D, diagnosis sample; R, relapse sample. d RT-PCR to PAX5-SPECC1 and sequencing of PAX5 transcript at diagnosis and relapse. e Expected protein sequence of the truncated PAX5 transcript derived from the PAX5-SPECC1 head-to-head fusion. The translated protein refers to the PAX5–201 (NM_016734), showing its alternating exons (black and green) with splice acceptor amino acid residue (red), and amino acid residues coded from the fusion site on SPECC1 (green). f Schematic representation of the PAX5 wild-type protein and the fusion transcript detected