32(03) 220-224 
| Simultaneous Translocation of Both TCR Loci (14q11) with Rare Partner Loci (Xq22 and 12p13) in a Case of T-lymphoblastic Leukemia |
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| Dong-Hee Kang, M.D.1, Se Hyung Kim, M.D.2, Jeong Woo Jun, M.T.1, Yong-Wha Lee, M.D.1, Hee Bong Shin, M.D.1, Jee Young Ahn, M.D.1, Dae Sik Hong, M.D.2, You Kyoung Lee, M.D.1, and Byung Ryul Jeon, M.D.1 | | Departments of Laboratory Medicine and Genetics1, Internal Medicine2, Division of Hematology & Oncology, Soonchunhyang University College of Medicine, Bucheon, Korea | |
| 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 α/δ 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 α/δ 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 α/δ loci were translocated
with different partner loci, and 1 of the partner loci, Xq22, was a rare translocation partner
locus that included IRS4 gene. |
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2012 May; 32(03) 220-224 |
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| DOI : http://dx.doi.org/10.3343/alm.2012.32.3.220 |
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| Keyword : T-lymphoblastic leukemia, Simultaneous translocation of TCR loci, IRS4 gene |
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