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 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.