Overall, we identified an unexpectedly high rate of fusion genes in not MLL-rearranged BCP-ALL Infant patients. For the first time, we discovered recurrent PAX5 fusions in infants BCP-ALL patients, associated to a worse outcome compared to NUTM1-class. We previously demonstrated in in vitro and in vivoexperiments using cells from older children that alternative treatments (i.e. Nintedanib) could be applied to PAX5 fusion positive cases  

The present study contributes to the continuous dissection of non MLL-rearranged Infant ALL patients in small subgroups characterized by different classes of gene fusions, associated to specific outcome. A remaining small subgroup (30%) of cases negative by this panel analysis deserves a further screening by Whole Transcriptome RNA-seq, in order to identify the potential involvement of other genes.

If confirmed in a larger patient cohort, these results could contribute to a better patient stratification, and potentially to a more tailored treatment approach with new targeted drugs.————————————————————————————————————————————————————————

 

 

 

 

In French children treated on or according to the Euro-LB02 T-LBL trial, MDD >0.1% identifies patients that respond well to standard therapy, despite the absence of N/F mutations. This study also demonstrates that MDD assessment in the poor prognosis N/F GL subgroup would allow a better identification of patients likely to benefit from alternative therapy.

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