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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)
Author(s) -
Panagopoulos Ioannis,
Kerndrup Gitte,
Carlsen Niels,
Strömbeck Bodil,
Isaksson Margareth,
Johansson Bertil
Publication year - 2007
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.2006.06410.x
Subject(s) - fusion protein , exon , fusion gene , microbiology and biotechnology , cancer research , biology , gene , genetics , recombinant dna
Summary 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.