title: Simultaneous translocation of both TCR Loci (14q11) with rare partner loci (Xq22 and 12p13) in a case of T-lymphoblastic leukemia.
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 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.
authors.affiliation: Department of Laboratory Medicine and Genetics, Soonchunhyang University College of Medicine, Bucheon, Korea.
authors.forename: Dong-Hee
authors.initials: DH
authors.lastname: Kang
authors.forename: Se Hyung
authors.initials: SH
authors.lastname: Kim
authors.forename: Jeong Woo
authors.initials: JW
authors.lastname: Jun
authors.forename: Yong-Wha
authors.initials: YW
authors.lastname: Lee
authors.forename: Hee Bong
authors.initials: HB
authors.lastname: Shin
authors.forename: Jee Young
authors.initials: JY
authors.lastname: Ahn
authors.forename: Dae Sik
authors.initials: DS
authors.lastname: Hong
authors.forename: You Kyoung
authors.initials: YK
authors.lastname: Lee
authors.forename: Byung Ryul
authors.initials: BR
authors.lastname: Jeon
mesh_terms: D000328:Adult; D002881:Chromosomes, Human, Pair 12; D002883:Chromosomes, Human, Pair 14; D041321:Chromosomes, Human, X; D056426:Genetic Loci; D006801:Humans; D055504:Insulin Receptor Substrate Proteins / Q000235:genetics; D007621:Karyotyping; D008297:Male; D054218:Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics* / Q000473:pathology; D011948:Receptors, Antigen, T-Cell / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: C107686:IRS4 protein, human; D055504:Insulin Receptor Substrate Proteins; D011948:Receptors, Antigen, T-Cell