B-cell acute lymphoblastic leukemia (B-ALL) is a heterogeneous disease
wherein cytogenetics comprises an independent prognostic factor.
Cytogenetic subgroups like B-ALL with t(9;22), MLL rearrangement,
hypodiploidy, and Ph-like ALL are stratified as high-risk and are
treated on the high-risk regimen. However, a subset that does not fall
into a specific cytogenetic risk groups, is classified as cytogenetics
NOS (Not Otherwise Specified) and might receive suboptimal chemotherapy.
Identifying genetic abnormalities that are susceptible to targeted
therapy can help improve outcomes. Therefore, with the intent to report
cytogenetic data potentially useful for targeted therapy, we report a
novel JAK2 amplification in a cytogenetically complex pediatric B-ALL
case with early relapse.