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)

Br J Haematol. 2007 Jan;136(2):294-6. doi: 10.1111/j.1365-2141.2006.06410.x.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Carrier Proteins / genetics*
  • Child
  • Chromosomes, Human, Pair 11*
  • Chromosomes, Human, Pair 18*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Leukemia-Lymphoma, Adult T-Cell / genetics*
  • Nuclear Pore Complex Proteins / genetics*
  • Nuclear Proteins / genetics*
  • Oncogene Proteins, Fusion / genetics*
  • Reverse Transcriptase Polymerase Chain Reaction
  • Translocation, Genetic*

Substances

  • Carrier Proteins
  • Nuclear Pore Complex Proteins
  • Nuclear Proteins
  • Oncogene Proteins, Fusion
  • SETBP1 protein, human
  • nuclear pore complex protein 98