The t(1;9)(p34;q34) and t(8;12)(p11;q15) fuse pre-mRNA processing proteins SFPQ (PSF) and CPSF6 to ABL and FGFR1

Genes Chromosomes Cancer. 2008 May;47(5):379-85. doi: 10.1002/gcc.20541.


We have investigated two patients with acquired chromosomal rearrangements, a male presenting with a t(1;9)(p34;q34) and B cell progenitor acute lymphoid leukemia and a female presenting with a t(8;12)(p11;q15) and the 8p11 myeloproliferative syndrome. We determined that the t(1;9) fused ABL to SFPQ (also known as PSF), a gene mapping to 1p34 that encodes a polypyrimidine tract-binding protein-associated splicing factor. The t(8;12) fused CPSF6, a cleavage and polyadenylation specificity factor, to FGFR1. The fusions were confirmed by amplification of the genomic breakpoints and RT-PCR. The predicted oncogenic products of these fusions, SFPQ-ABL and CPSF6-FGFR1, are in-frame and encode the N-terminal domain of the partner protein and the entire tyrosine kinase domain and C-terminal sequences of ABL and FGFR1. SFPQ interacts with two FGFR1 fusion partners, ZNF198 and CPSF6, that are functionally related to the recurrent PDGFRalpha partner FIP1L1. Our findings thus identify a group of proteins that are important for pre-mRNA processing as fusion partners for tyrosine kinases in hematological malignancies.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Chromosomes, Human, Pair 1*
  • Chromosomes, Human, Pair 9*
  • DNA Primers
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Oncogene Proteins v-abl / genetics*
  • PTB-Associated Splicing Factor
  • RNA Precursors / metabolism*
  • RNA, Messenger / metabolism*
  • RNA-Binding Proteins / genetics*
  • Receptor, Fibroblast Growth Factor, Type 1 / genetics*
  • Reverse Transcriptase Polymerase Chain Reaction
  • Translocation, Genetic*


  • DNA Primers
  • Oncogene Proteins v-abl
  • PTB-Associated Splicing Factor
  • RNA Precursors
  • RNA, Messenger
  • RNA-Binding Proteins
  • FGFR1 protein, human
  • Receptor, Fibroblast Growth Factor, Type 1