t(8;12)(p12;p11) FGFR1OP2/FGFR1
ins(12;8)(p11;p12p22) FGFR1OP2/FGFR1

2007-12-01   Jean-Loup Huret 

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

Clinics and Pathology


Non Hodgkin lymphoma (NHL) associated with myeloproliferative disease (MPD), typical of the 8p11 myeloproliferative syndrome (EMS)


Only one case to date, a 75 year old male patient


The patient presented with a T-cell lymphoblastic Lymphoma. Complete remission was obtained on treatment, but a relapse occurred and the patient developped an acute myeloid leukaemia (AML) and died 3 months later.

Genes Involved and Proteins

Gene name
FGFR1 (Fibroblast Growth Factor Receptor 1)
Protein description
FGF receptor with tyrosine kinase activity; binding of ligand induces receptor dimerization, autophosphorylation and signal transduction
Gene name
FGFR1OP2 (FGFR1 oncogene partner 2)
Protein description
Poorly known; expressed in various tissues; no significant homology to any known protein; comprises coiled-ciol domains

Result of the Chromosomal Anomaly


5 FGFR1OP2 - 3 FGFR1; in frame fusion of exon 4 of FGFR1OP2 to exon 9 of FGFR1 (nucleotide 1817 of FGFR1OP2 intron 4 joined to nucleotide 1132 of FGFR1 intron 8). Reciprocal transcripts were not detected. The direction of transcription of FGFR1OP2 is telomere to centromere, while FGFR1s transcription is centromere to telomere, implying an inversionThe first 2 coiled-coil domains of FGFR1OP2 is fused to the COOH terminal part of FGFR1, including part of its juxta membrane domain, and its tyrosine kinase domain: 132 amino acids from FGFR1OP2 and 394 from FGFR1. The FGFR1OP2-FGFR1 fusion protein may exhibit constitutive kinase activity, inducing dimerization, constitutive signal transduction, and be responsible for transforming activity.


Pubmed IDLast YearTitleAuthors
150348732004Identification of a novel gene, FGFR1OP2, fused to FGFR1 in 8p11 myeloproliferative syndrome.Grand EK et al


Fusion gene

FGFR1OP2/FGFR1 FGFR1OP2 (12p11.23) FGFR1 (8p11.23) M|FGFR1OP2/FGFR1 FGFR1OP2 (12p11.23) FGFR1 (8p11.23) M ins(12;8)(p11;p11p22)|FGFR1OP2/FGFR1 FGFR1OP2 (12p11.23) FGFR1 (8p11.23) TIC


Jean-Loup Huret

t(8;12)(p12;p11) FGFR1OP2/FGFR1
ins(12;8)(p11;p12p22) FGFR1OP2/FGFR1

Atlas Genet Cytogenet Oncol Haematol. 2007-12-01

Online version: http://atlasgeneticsoncology.org/haematological/1330/ins(12;8)(p11;p12p22)

External Links