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 Tirado¹  David Shabsovich¹  Lei Yeh¹  Sheeja T Pullarkat¹  Lynn Yang¹  Michael Kallen¹  Nagesh Rao¹ 

[1] Department of Pathology and Laboratory Medicine, David Geffen UCLA School of Medicine, Los Angeles 90024, CA, USA

关键词: FISH;    cytogenetics;    B-ALL;    hyperdiploidy;    TCF3-PBX1;   

Others  :  1132555
DOI  :  10.1186/s40364-015-0029-0

 received in 2014-12-18, accepted in 2015-01-30,  发布年份 2015

【 摘 要 】

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).

【 授权许可】

   
2015 Tirado et al.; licensee BioMed Central.

【 图 表 】

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