t(1;9)(p34;q34) SFPQ/ABL1

2011-05-01   Jean-Loup Huret 

1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Clinics and Pathology


B cell progenitor acute lymphoid leukemia (B-ALL)


Only one case to date, a 22-year-old male patient (Hidalgo-Curtis et al., 2008).


Complete remission was obtained, a relapse occured. The patient was in complete remission 6 years after diagnosis.

Genes Involved and Proteins

Gene name
SFPQ (PTB-associated splicing factor)
Protein description
DNA- and RNA binding protein; pre-mRNA splicing factor; binds specifically to intronic polypyrimidine tracts.
Role in transcription and RNA splicing: SFPQ, often called PSF, is a coactivator of Fox proteins, which bind the RNA element UGCAUG and regulate alternative pre-mRNA splicing. SFPQ and NONO are part of a large complex with all the snRNPs. SFPQ is phosphorylated by GSK3, which prevents SFPQ from binding PTPRC (CD45 antigen) pre-mRNA. The association of HNRNPL and SFPQ drives the change in PTPRC (CD45) splicing (CD45 undergoes alternative splicing in response to T-cell activation).
DNA damage: DNA double-strand breaks are repaired via nonhomologous DNA end joining and homologous recombination. The SFPQ/NONO heterodimer enhances DNA strand break rejoining. SFPQ has homologous recombination and non-homologous end joining activities. SFPQ is associated with the RAD51 protein complex.
Role in transcriptional regulation: SFPQ and PTK6 (protein tyrosine kinase 6, also called BRK) play a role downstream of the EGF receptor (EGFR). SFPQ and NONO form complexes with the androgen receptor (AR) and modulate its transcriptional activity (Huret, 2011).
Gene name
ABL1 (v-abl Abelson murine leukemia viral oncogene homolog 1)
Protein description
ABL1, when localized in the nucleus, induces apoptosis after DNA damage. Cytoplasmic ABL1 has a possible function in adhesion signalling (Turhan, 2008).

Result of the Chromosomal Anomaly


Break in the 3 of SFPQ exon 10 and reunion with ABL1 intron 3; a further mRNA splicing gives rise to a chimeric SFPQ exons 1 to 9 (nucleotide 2072) fused to ABL1 exon 4 to end.1609 amino acids fusion protein of 174 kDa; retains most of SFPQ, including the RNA recognition motifs and the coiled-coil domain (dimerization domain), fused to the SH2 domain of ABL1; the fusion protein also includes the SH1 domain (tyrosine kinase activity), the nuclear localization domain, and the actin binding domain of ABL1.


Constitutive tyrosine kinase activation is likely, through dimerization of the fusion protein.

Highly cited references

Pubmed IDYearTitleCitations
214350022011ABL1 fusion genes in hematological malignancies: a review.32
295070762018Prognostic impact of kinase-activating fusions and IKZF1 deletions in pediatric high-risk B-lineage acute lymphoblastic leukemia.12
323064752020SFPQ-ABL1-positive B-cell precursor acute lymphoblastic leukemias.1
278941172017t(1;9)(p34;q34)/SFPQ-ABL1 Fusion in a Patient with Ph-Like Common B-Cell Acute Lymphoblastic Leukemia.1
350618862022SFPQ-ABL1 and BCR-ABL1 use different signaling networks to drive B-cell acute lymphoblastic leukemia.0


Pubmed IDLast YearTitleAuthors
182052092008The t(1;9)(p34;q34) and t(8;12)(p11;q15) fuse pre-mRNA processing proteins SFPQ (PSF) and CPSF6 to ABL and FGFR1.Hidalgo-Curtis C et al


Fusion gene

SFPQ/ABL1 SFPQ (16q24.1) ABL1 (9q34.12) M|SFPQ/ABL1 SFPQ (16q24.1) ABL1 (9q34.12) M t(1;9)(p34;q34)|SFPQ/ABL1 SFPQ (1p34.3) ABL1 (9q34.12) TIC


Jean-Loup Huret

t(1;9)(p34;q34) SFPQ/ABL1

Atlas Genet Cytogenet Oncol Haematol. 2011-05-01

Online version: http://atlasgeneticsoncology.org/haematological/2143/t(1;9)(p34;q34)