t(8;12)(p12;q15) CPSF6/FGFR1

2008-07-01   Jean-Loup Huret  

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

Clinics and Pathology

Disease

8p11 myelopreoliferative syndrome (EMS)

Phenotype stem cell origin

Patients with EMS present with a myeloproliferative syndrome (MPS) with eosinophilia and a T-cell non Hodgkin lymphoma (NHL).

Epidemiology

Only one case to date, a 75 year old female patient (Sohal et al., 2001; Hidalgo-Curtis et al., 2008).

Evolution

The patient died 2 months after diagnosis, due to her lymphoma.

Genes Involved and Proteins

Gene name
FGFR1 (Fibroblast Growth Factor Receptor 1)
Location
8p11.23
Protein description
Receptor tyrosine kinase; contains an extracellular ligand-binding domain with Ig-like structures, a transmembrane domain, and a cytosolic tyrosine kinase (TK) domain. Involved in signal transduction.
Gene name
CPSF6 (cleavage and polyadenylation specific factor 6)
Location
12q15
Protein description
Contains a RNA recognition motif (RRM), a proline rich domain, and an arginine rich domain. Involved in pre-mRNA processing.

Result of the Chromosomal Anomaly

Description

5 CPSF6-3 FGFR1; fusion of CPSF6 intron 8 to FGFR1 exon 9, at nucleotide 1272 from ATG.895 amino acids protein (97 kDa) with the RRM domain of CPSF6, fused to the TK domain of FGFR1.

Highly cited references

Pubmed IDYearTitleCitations
182052092008The t(1;9)(p34;q34) and t(8;12)(p11;q15) fuse pre-mRNA processing proteins SFPQ (PSF) and CPSF6 to ABL and FGFR1.14

Article Bibliography

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
115502832001Identification of four new translocations involving FGFR1 in myeloid disorders.Sohal J et al

Summary

Fusion gene

CPSF6/FGFR1 CPSF6 (12q15) FGFR1 (8p11.23) M t(8;12)(p11;q15)

Citation

Jean-Loup Huret

t(8;12)(p12;q15) CPSF6/FGFR1

Atlas Genet Cytogenet Oncol Haematol. 2008-07-01

Online version: http://atlasgeneticsoncology.org/haematological/1201/js/case-report-explorer/gene-explorer/