| Written | 2011-05 | Jean-Loup Huret |
| Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
| Identity |
| ICD-Topo | C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS |
| 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 |
| Cytogenetics Morphological | The translocation was found solely in the main clone, and a subclone also showed a +21. |
| Genes involved and Proteins |
| Gene Name | SFPQ (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 Name | ABL1 (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 |
| 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. |
| 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. |
| Bibliography |
| 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. http://atlasgeneticsoncology.org/Genes/PSFID167.html |
| ABL1 (v-abl Abelson murine leukemia viral oncogene homolog 1). |
| Turhan AG. |
| Atlas Genet Cytogenet Oncol Haematol. August 2008. http://atlasgeneticsoncology.org/Genes/ABL.html |
| Citation |
| This paper should be referenced as such : |
| Huret, JL |
| t(1;9)(p34;q34) |
| Atlas Genet Cytogenet Oncol Haematol. 2011;15(11):974-975. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Anomalies/t0109p34q34ID2143.html |
| Translocations implicated (Data extracted from papers in the Atlas) |
| t(1;9)(p34;q34) SFPQ/ABL1 | |
| External links |
| Mitelman database | t(1;9)(p34;q34) [Case List] t(1;9)(p34;q34) [Association List] Mitelman database (CGAP - NCBI) |
| arrayMap | Topo ( C42) Morph ( 9811/3) - arrayMap (UZH-SIB Zurich) [auto + random 100 samples .. if exist ] [tabulated segments] |
| Mitelman database | SFPQ/ABL1 [MCList] SFPQ (16q24.1) ABL1 (9q34.12) |
| Mitelman database | SFPQ/ABL1 [MCList] SFPQ (16q24.1) ABL1 (9q34.12) |
| TICdb | SFPQ/ABL1 SFPQ (1p34.3) ABL1 (9q34.12) |
| Disease database | t(1;9)(p34;q34) SFPQ/ABL1 |
| REVIEW articles | automatic search in PubMed |
| Last year articles | automatic search in PubMed |
| All articles | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Tue Sep 26 12:35:30 CEST 2017 |
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