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KMID : 1100720120320030220
Annals of Laboratory Medicine
2012 Volume.32 No. 3 p.220 ~ p.224
Simultaneous Translocation of Both TCR Loci (14q11) with Rare Partner Loci (Xq22 and 12p13) in a Case of T-lymphoblastic Leukemia
Kang Dong-Hee

Kim Se-Hyung
Jun Jeong-Woo
Lee Yong-Wha
Sin Hue-Bong
Ahn Ji-Young
Hong Dae-Sik
Lee You-Kyoung
Jeon Byung-Ryul
Abstract
The most common recurrent cytogenetic abnormalities in T-lymphoblastic leukemia (Tacute 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 ¥á/¥ä 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 ¥á/¥ä 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 ¥á/¥ä loci were translocated with different partner loci, and 1 of the partner loci, Xq22, was a rare translocation partner locus that included IRS4 gene.
KEYWORD
T-lymphoblastic leukemia, Simultaneous translocation of TCR loci, IRS4 gene
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