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ERG deletion in BCP-ALL
were ERGdel-positive using PCR screening which pre- method, we designed deep amplicon sequencing system vented their classification as IKZF1plus-ALL. Notably, SNP (AmpliSeq) allowing us to easily distinguish between dif- array revealed ERGdel in only one of the six patients. ferent ERGdel alleles co-occurring in one sample, as well
as to filter out sequences of non-specific products and / or AmpliSeq: a novel method for ERGdel detection and primers-dimers which complicate analysis of Sanger analysis of ERGdel repertoire sequencing. During the PCR step of the AmpliSeq To overcome the disadvantages of the “PCR + Sanger” approach, individual samples were labeled with unique
AB
CD
EF
Figure 2. Impact of ERGdel on survival within acute lymphoblastic leukemia (DUX4r-ALL). Five-year event-free survival (EFS) (A, C, E) and overall survival (OS) (B, D, F) of DUX4r-ALL patients stratified according to the presence of ERGdel as defined by single nucleotide polymorphism array (A and B), genomic polymerase chain reaction (C and D), and amplicon sequencing (AmpliSeq) (E and F). n: number.
haematologica | 2019; 104(7)
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