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

Written2011-05Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

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ICD-Morpho 9811/3 B lymphoblastic leukaemia/lymphoma, NOS
Atlas_Id 2143

Clinics and Pathology

Disease B cell progenitor acute lymphoid leukemia (B-ALL)
Epidemiology Only one case to date, a 22-year-old male patient (Hidalgo-Curtis et al., 2008).
Prognosis Complete remission was obtained, a relapse occured. The patient was in complete remission 6 years after diagnosis.


Cytogenetics Morphological The translocation was found solely in the main clone, and a subclone also showed a +21.

Genes involved and Proteins

Gene NameSFPQ (PTB-associated splicing factor)
Location 1p34.3
Protein 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 NameABL1 (v-abl Abelson murine leukemia viral oncogene homolog 1)
Location 9q34.12
Protein 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

Hybrid gene
Description 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.
Fusion Protein
Description 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.
Oncogenesis Constitutive tyrosine kinase activation is likely, through dimerization of the fusion protein.

To be noted

Additional cases are needed to delineate the epidemiology of this rare entity:
you are welcome to submit a paper to our new Case Report section.


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.
Hidalgo-Curtis C, Chase A, Drachenberg M, Roberts MW, Finkelstein JZ, Mould S, Oscier D, Cross NC, Grand FH.
Genes Chromosomes Cancer. 2008 May;47(5):379-85.
PMID 18205209
SFPQ (splicing factor proline/glutamine-rich).
Huret JL.
Atlas Genet Cytogenet Oncol Haematol. January 1999.
ABL1 (v-abl Abelson murine leukemia viral oncogene homolog 1).
Turhan AG.
Atlas Genet Cytogenet Oncol Haematol. August 2008.


This paper should be referenced as such :
Huret, JL
Atlas Genet Cytogenet Oncol Haematol. 2011;15(11):974-975.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)

 t(1;9)(p34;q34) SFPQ/ABL1

External links

SFPQ (16q24.1) ABL1 (9q34.12)

SFPQ (16q24.1) ABL1 (9q34.12)

SFPQ (1p34.3) ABL1 (9q34.12)

Mitelman databaset(1;9)(p34;q34)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9811/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
Mitelman databaseSFPQ::ABL1 [MCList]  SFPQ (16q24.1) ABL1 (9q34.12)
Mitelman databaseSFPQ::ABL1 [MCList]  SFPQ (16q24.1) ABL1 (9q34.12)
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