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).

Summary, in English

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.

• Författare: Ioannis Panagopoulos; Gitte Kerndrup; Niels Carlsen; Bodil Strömbeck; Margareth Isaksson; Bertil Johansson
• Avdelning/ar: Avdelningen för klinisk genetik
• Publiceringsår: 2007
• Språk: Engelska
• Sidor: 294-296
• Publikation/Tidskrift/Serie: British Journal of Haematology
• Volym: 136
• Issue: 2
• Länkar: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17233820&dopt=Abstract; http://dx.doi.org/10.1111/j.1365-2141.2006.06410.x
• Dokumenttyp: Artikel i tidskrift
• Förlag: Wiley-Blackwell
• Ämne: Hematology
• Status: Published
• ISBN/ISSN/Övrigt: ISSN: 0007-1048