Simultaneous Translocation of Both TCR Loci (14q11) with Rare Partner Loci (Xq22 and 12p13) in a Case of T-lymphoblastic Leukemia

• Published in: Annals of laboratory medicine Vol. 32; no. 3; pp. 220 - 224
• Main Authors: Kang, Dong-Hee, Kim, Se Hyung, Jun, Jeong Woo, Lee, Yong-Wha, Shin, Hee Bong, Ahn, Jee Young, Hong, Dae Sik, Lee, You Kyoung, Jeon, Byung Ryul
• Format: Journal Article
• Language: English
• Published: Korea (South) The Korean Society for Laboratory Medicine 01.05.2012; 대한진단검사의학회
• Subjects: Adult; Case Report; Chromosomes, Human, Pair 12; Chromosomes, Human, Pair 14; Chromosomes, Human, X; Genetic Loci; Humans; Insulin Receptor Substrate Proteins - genetics; Karyotyping; Male; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma - genetics; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma - pathology; Receptors, Antigen, T-Cell - genetics; Translocation, Genetic; 병리학; Simultaneous translocation of TCR loci; T-lymphoblastic leukemia; IRS4 gene
• ISSN: 2234-3806; 2234-3814; 2234-3814
• DOI: 10.3343/alm.2012.32.3.220

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 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.