Background B-ALL can be classified by the occurrence of several genetic alterations. Recently,
a new subgroup – named IKZF1plus – was associated with a worse prognosis in B-ALL.
IKZF1plus is defined by the co-occurrence of IKZF1 deletion and CDKN2A, CDKN2B (homozygous),
PAX5 or PAR1 deletion, in the absence of ERG alteration. Therefore, we aim to identify
cellular markers for the prediction of the IKZF1plus group. Methods and results: We
used the TARGET database (WGS, RNA-seq and clinical data) for the analyses. A total
of 125 pediatric patients were included and grouped as IKZF1plus (13 %), IKZF1 deletion
only (9 %) and IKZF1 wild-type (78 %). There was an enrichment of IKZF1plus cases
in the B-other subgroup, which was selected for further analyses. The differential
expression analyses performed with DESeq2 was used to compare the three groups. Results
showed that four genes had increased expression, while thirteen were downregulated
in the IKZF1plus group. CRLF2 had the highest expression when IKZF1plus was compared
with the wild-type. Conclusion: We identified potential markers for IKZF1plus. Indeed,
CRLF2 expression could be a good candidate marker to identify this subtype.
