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Annals of Laboratory Medicine ; : 220-224, 2012.
Article in English | WPRIM | ID: wpr-214989

ABSTRACT

The most common recurrent cytogenetic abnormalities in T-lymphoblastic leukemia (T-acute lymphoblastic leukemia [T-ALL]) involve T-cell receptor (TCR) loci and a variety of partner genes, including HOX11, HOX11L2, MYC, and TAL1. In this report, we present a rare case involving simultaneous translocation of the TCR alpha/delta loci with different partner loci (Xq22 and 12p13); this resulted in a poor prognosis. Chromosomal analysis showed 46,Y,t(X;14)(q22;q11.2),t(12;14)(p13;q11.2) and FISH analysis by using a T-cell receptor alpha delta DNA probe, Split Signal (DakoCytomation, Denmark), showed translocations at the same TCR alpha/delta locus on both chromosomes. FISH with 2 bacterial artificial chromosome clones showed break apart signal, which suggests involvement of the IRS4 gene. To our knowledge, this is the first report of T-ALL in which both TCR alpha/delta loci were translocated with different partner loci, and 1 of the partner loci, Xq22, was a rare translocation partner locus that included IRS4 gene.


Subject(s)
Adult , Humans , Male , Chromosomes, Human, Pair 12 , Chromosomes, Human, Pair 14 , Chromosomes, Human, X , Genetic Loci , Insulin Receptor Substrate Proteins/genetics , Karyotyping , Precursor T-Cell Lymphoblastic Leukemia-Lymphoma/genetics , Receptors, Antigen, T-Cell/genetics , Translocation, Genetic
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