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Background  The t(1;19)(q23;p13), which can result in the  TCF3-PBX1  chimeric gene, is one of the most frequent translocations in B-acute lymphoblastic leukemia (B-ALL) and is observed in both adult and pediatric populations at an overall frequency of 6%. It can occur in a balanced or unbalanced form and as a sole abnormality is associated with an intermediate prognosis. Additionally, this translocation is observed in the context of hyperdiploid B-ALL, in which case it is associated with a poor prognosis. However, due to different translocation partner genes at chromosomes 1 and 19, distinct subtypes of hyperdiploid B-ALL with t(1;19)/der(19)t(1;19) are recognized based on the presence or absence of the  TCF3-PBX1  fusion gene, but the cytogenetic and etiologic differences between the two remain understudied.    Findings  We report a case of an adult with a history of relapsed precursor B-ALL whose conventional cytogenetics showed an abnormal female karyotype with both hyperdiploidy and a t(1;19)(q23;p13). Fluorescence in situ hybridization (FISH) on previously G-banded metaphases using the LSI TCF3/PBX1 Dual Color, Dual Fusion Translocation Probe confirmed the presence of the  TCF3-PBX1  gene fusion.    Conclusions  This particular pattern with a  TCF3-PBX1  fusion within the context of a hyperdiploid karyotype is seen in B-ALL and is usually associated with a poor outcome. This case is one of only a few cases with both hyperdiploidy and a confirmed  TCF3 - PBX1  fusion, demonstrating the importance of using FISH for proper molecular classification of these cases in order to distinguish them from those with hyperdiploidy but no  TCF3-PBX1  fusion gene. Such molecular studies may provide insight into the precise differences between  TCF3-PBX1  positive and negative hyperdiploid B-ALL bearing the t(1;19)(q23;p13).

biomarker research

A (1;19) translocation involving TCF3-PBX1 fusion within the context of a hyperdiploid karyotype in adult B-ALL: a case report and review of the literature