title: t(6;14)(p22;q32): a new recurrent IGH@ translocation involving ID4 in B-cell precursor acute lymphoblastic leukemia (BCP-ALL).
abstract: Translocations involving the immunoglobulin heavy chain locus (IGH@) at chromosome band 14q32 are common in mature B-cell neoplasms, but are rare in B-cell precursor acute lymphoblastic leukemia (BCP-ALL). Here, we report the translocation, t(6;14)(p22;q32), involving IGH@ as a novel recurrent translocation in 13 BCP-ALL patients. Fluorescence in situ hybridization and long-distance inverse polymerase chain reaction (PCR) identified ID4 as the partner gene. Breakpoints were scattered over a 19kb region centromeric of ID4. Quantitative real-time PCR showed up-regulation of ID4 mRNA. All patients had deletions of CDKN2A and PAX5 located on the short arm of chromosome 9, frequently as a result of an isochromosome, i(9)(q10) (9/13, 69%). This study defines a new subgroup of BCP-ALL characterized by ID4 over-expression and CDKN2A and PAX5 deletions. Preliminary survival data suggest that this subgroup may be associated with a good response to therapy.
authors.affiliation: Leukaemia Research Cytogenetics Group, Cancer Sciences Division, University of Southampton, Southampton General Hospital, Southampton, United Kingdom.
authors.forename: Lisa J
authors.initials: LJ
authors.lastname: Russell
authors.forename: Takashi
authors.initials: T
authors.lastname: Akasaka
authors.forename: Aneela
authors.initials: A
authors.lastname: Majid
authors.forename: Kei-Ji
authors.initials: KJ
authors.lastname: Sugimoto
authors.forename: E
authors.initials: E
authors.lastname: Loraine Karran
authors.forename: Inga
authors.initials: I
authors.lastname: Nagel
authors.forename: Lana
authors.initials: L
authors.lastname: Harder
authors.forename: Alexander
authors.initials: A
authors.lastname: Claviez
authors.forename: Stefan
authors.initials: S
authors.lastname: Gesk
authors.forename: Anthony V
authors.initials: AV
authors.lastname: Moorman
authors.forename: Fiona
authors.initials: F
authors.lastname: Ross
authors.forename: Helen
authors.initials: H
authors.lastname: Mazzullo
authors.forename: Jonathan C
authors.initials: JC
authors.lastname: Strefford
authors.forename: Reiner
authors.initials: R
authors.lastname: Siebert
authors.forename: Martin J S
authors.initials: MJ
authors.lastname: Dyer
authors.forename: Christine J
authors.initials: CJ
authors.lastname: Harrison
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002648:Child; D002883:Chromosomes, Human, Pair 14; D002896:Chromosomes, Human, Pair 6; D002899:Chromosomes, Human, Pair 9; D005260:Female; D017353:Gene Deletion; D019942:Genes, p16; D006801:Humans; D007143:Immunoglobulin Heavy Chains / Q000235:genetics*; D017404:In Situ Hybridization, Fluorescence; D051796:Inhibitor of Differentiation Proteins / Q000235:genetics*; D015448:Leukemia, B-Cell / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D051757:PAX5 Transcription Factor / Q000235:genetics; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014178:Translocation, Genetic
chemical_list: C490128:ID4 protein, human; D007143:Immunoglobulin Heavy Chains; D051796:Inhibitor of Differentiation Proteins; D051757:PAX5 Transcription Factor; C497281:PAX5 protein, human