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

Biomarker Research
Carlos A TiradoNagesh Rao

Abstract

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. 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. This particular pattern with a TCF3-PBX1 fusion within t...Continue Reading

References

Mar 1, 1995·British Journal of Haematology·X TroussardA Brizard
Feb 13, 2003·British Journal of Haematology·Robin FoaFranco Mandelli
Jul 7, 2011·International Journal of Hematology·Ryosuke ShirasakiNaoki Shirafuji
Jul 3, 2013·Cytogenetic and Genome Research·A SimonsR J Hastings
Oct 3, 2014·Molecular Biology of the Cell·Leon Juvenal HajingaboJean-Claude Twizere

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Citations

Jul 1, 2020·Frontiers in Genetics·Peiqi WangXiaoxi Lu

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Methods Mentioned

BETA
biopsy
Fusion
PCR

Software Mentioned

Applied Imaging CytoVision

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