Table 1.

Genomic alterations associated with outcome and/or are targets for therapy in ALL

AlterationDetectionComment
IKZF1 deletions and sequence mutationsDNA microarrays, qPCR, sequencingRange of deletions and sequence mutations. Associated with high risk of treatment failure in B-ALL
CRLF2 rearrangementFlow cytometry, FISH, genomic PCR, RT-PCRConcomitant JAK mutations in >50% of cases
JAK1/2 mutationsSequencingPseudokinase and kinase domains of JAK1/2. Phase I trial of JAK inhibitors in pediatric tumors under development
Other kinase gene rearrangementsRT-PCRPreliminary data: NUP214-ABL1 and STRN3-JAK2 rearrangements in high-risk ALL
ETP immunophenotype in T-ALLImmunophenotypingImmature phenotype, very high risk of relapse, genetic basis unknown