title: A new recurrent and specific cryptic translocation, t(5;14)(q35;q32), is associated with expression of the Hox11L2 gene in T acute lymphoblastic leukemia.
abstract: FISH identified a cryptic t(5;14)(q35;q32) in T acute lymphoblastic leukemia (ALL), whereas it was not observed in B ALL samples. This translocation is present in five out of 23 (22%) children and adolescents with T ALL tested. RanBP17, a gene coding for a member of the importin beta protein family, and Hox11Like2, an orphan homeobox gene were mapped close to the chromosome 5 breakpoints and CTIP2, which is highly expressed during normal T cell differentiation, was localized in the vicinity of the chromosome 14 breakpoints. The Hox11L2 gene was found to be transcriptionally activated as a result of the translocation, probably under the influence of CTIP2 transcriptional regulation elements. These data establish the t(5;14)(q35;q32) as a major abnormality, and Hox11 family member activation as an important pathway in T ALL leukemogenesis.
authors.affiliation: U434 INSERM-CEPH and SD401 No. 434 CNRS, Paris, France.
authors.forename: O A
authors.initials: OA
authors.lastname: Bernard
authors.forename: M
authors.initials: M
authors.lastname: Busson-LeConiat
authors.forename: P
authors.initials: P
authors.lastname: Ballerini
authors.forename: M
authors.initials: M
authors.lastname: Mauchauffé
authors.forename: V
authors.initials: V
authors.lastname: Della Valle
authors.forename: R
authors.initials: R
authors.lastname: Monni
authors.forename: F
authors.initials: F
authors.lastname: Nguyen Khac
authors.forename: T
authors.initials: T
authors.lastname: Mercher
authors.forename: V
authors.initials: V
authors.lastname: Penard-Lacronique
authors.forename: P
authors.initials: P
authors.lastname: Pasturaud
authors.forename: L
authors.initials: L
authors.lastname: Gressin
authors.forename: R
authors.initials: R
authors.lastname: Heilig
authors.forename: M T
authors.initials: MT
authors.lastname: Daniel
authors.forename: M
authors.initials: M
authors.lastname: Lessard
authors.forename: R
authors.initials: R
authors.lastname: Berger
mesh_terms: D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D016022:Case-Control Studies; D002471:Cell Transformation, Neoplastic; D002648:Child; D002675:Child, Preschool; D019457:Chromosome Breakage; D002883:Chromosomes, Human, Pair 14; D002895:Chromosomes, Human, Pair 5; D020732:Cytogenetic Analysis; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D015459:Leukemia-Lymphoma, Adult T-Cell / Q000209:etiology / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D015513:Oncogene Proteins / Q000235:genetics*; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000209:etiology / Q000235:genetics*; D011518:Proto-Oncogene Proteins; D016415:Sequence Alignment; D014178:Translocation, Genetic / Q000235:genetics*; D020931:ran GTP-Binding Protein / Q000235:genetics
chemical_list: D018398:Homeodomain Proteins; D015513:Oncogene Proteins; D011518:Proto-Oncogene Proteins; C417257:RanGTP-binding protein 17; C489494:TLX3 protein, human; C071250:TLX1 protein, human; D020931:ran GTP-Binding Protein