title: Various types of rearrangements target TLX3 locus in T-cell acute lymphoblastic leukemia.
abstract: Most chromosomal translocations observed in T-cell acute lymphoblastic leukemia (T-ALL) often produce transcriptional activation of transcription factor oncogenes. Ectopic expression of the TLX3 (also known as HOX11L2) gene has been shown to be associated with a cryptic t(5;14)(q35;q32) translocation specific for a subtype of T-ALL. Here we report several examples of variant and alternative translocations resulting in expression of TLX3 in T-ALL, and we describe three of these translocations in detail. In particular, the CDK6 gene was rearranged in two t(5;7)(q35;q21) translocations. In two additional instances, fusion of the BCL11B (also known as CTIP2) and RANBP17/TLX3 loci were shown to result from subtle genomic insertion/deletion within these loci. This study further underscores that TLX3 expression in T-ALL is strongly associated with the presence of genomic rearrangements.
authors.affiliation: INSERM E0210, IRNEM, Hôpital Necker, Paris, France.
authors.forename: Xin Ying
authors.initials: XY
authors.lastname: Su
authors.forename: Maryvonne
authors.initials: M
authors.lastname: Busson
authors.forename: Véronique
authors.initials: V
authors.lastname: Della Valle
authors.forename: Paola
authors.initials: P
authors.lastname: Ballerini
authors.forename: Nicole
authors.initials: N
authors.lastname: Dastugue
authors.forename: Pascaline
authors.initials: P
authors.lastname: Talmant
authors.forename: Adolfo A
authors.initials: AA
authors.lastname: Ferrando
authors.forename: Dominique
authors.initials: D
authors.lastname: Baudry-Bluteau
authors.forename: Serge
authors.initials: S
authors.lastname: Romana
authors.forename: Roland
authors.initials: R
authors.lastname: Berger
authors.forename: Olivier A
authors.initials: OA
authors.lastname: Bernard
mesh_terms: D000293:Adolescent; D015153:Blotting, Western; D045744:Cell Line, Tumor; D002648:Child; D002675:Child, Preschool; D002871:Chromosome Banding; D002875:Chromosomes / Q000648:ultrastructure; D051361:Cyclin-Dependent Kinase 6; D018844:Cyclin-Dependent Kinases / Q000235:genetics; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D016130:Immunophenotyping; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D008957:Models, Genetic; D015513:Oncogene Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*; D011518:Proto-Oncogene Proteins; D014178:Translocation, Genetic; D020931:ran GTP-Binding Protein / Q000235:genetics; D018631:ras Proteins / Q000235:genetics
chemical_list: D018398:Homeodomain Proteins; D015513:Oncogene Proteins; D011518:Proto-Oncogene Proteins; C417257:RanGTP-binding protein 17; C487378:Tlx1 protein, mouse; C071250:TLX1 protein, human; C495911:CDK6 protein, human; D051361:Cyclin-Dependent Kinase 6; D018844:Cyclin-Dependent Kinases; C486776:RIT1 protein, human; D020931:ran GTP-Binding Protein; D018631:ras Proteins