title: Fusion of NUP98 and the SET binding protein 1 (SETBP1) gene in a paediatric acute T cell lymphoblastic leukaemia with t(11;18)(p15;q12).
abstract: Three NUP98 chimaeras have previously been reported in T cell acute lymphoblastic leukaemia (T-ALL): NUP98/ADD3, NUP98/CCDC28A, and NUP98/RAP1GDS1. We report a T-ALL with t(11;18)(p15;q12) resulting in a novel NUP98 fusion. Fluorescent in situ hybridisation showed NUP98 and SET binding protein 1(SETBP1) fusion signals; other analyses showed that exon 12 of NUP98 was fused in-frame with exon 5 of SETBP1. Nested polymerase chain reaction did not amplify the reciprocal SETBP1/NUP98, suggesting that NUP98/SETBP1 transcript is pathogenetically important. SETBP1 has previously not been implicated in leukaemias; however, it encodes a protein that specifically interacts with SET, fused to NUP214 in a case of acute undifferentiated leukaemia.
authors.affiliation: Department of Clinical Genetics, University Hospital, Lund, Sweden. ioannis.panagopoulos@med.lu.se
authors.forename: Ioannis
authors.initials: I
authors.lastname: Panagopoulos
authors.forename: Gitte
authors.initials: G
authors.lastname: Kerndrup
authors.forename: Niels
authors.initials: N
authors.lastname: Carlsen
authors.forename: Bodil
authors.initials: B
authors.lastname: Strömbeck
authors.forename: Margareth
authors.initials: M
authors.lastname: Isaksson
authors.forename: Bertil
authors.initials: B
authors.lastname: Johansson
mesh_terms: D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D002880:Chromosomes, Human, Pair 11; D002887:Chromosomes, Human, Pair 18; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015459:Leukemia-Lymphoma, Adult T-Cell / Q000235:genetics*; D028861:Nuclear Pore Complex Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014178:Translocation, Genetic
chemical_list: D002352:Carrier Proteins; D028861:Nuclear Pore Complex Proteins; D009687:Nuclear Proteins; D015514:Oncogene Proteins, Fusion; C425066:SETBP1 protein, human; C093350:nuclear pore complex protein 98