| Clinics and Pathology |
| Disease | Non Hodgkin lymphoma (NHL) associated with myeloproliferative disease (MPD), typical of the 8p11 myeloproliferative syndrome (EMS) |
| Epidemiology | Only one case to date, a 75 year old male patient |
| Clinics | 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. |
| Cytogenetics |
| Cytogenetics Morphological | The patient had a ins(12;8)(p11;p12p22) at diagnosis of the NHL; monosomy 7 was found as an additionnal anomaly at the time of the AML onset |
| Genes involved and Proteins |
| Gene Name | FGFR1 |
| Location | 8p12 |
| Protein | FGF receptor with tyrosine kinase activity; binding of ligand induces receptor dimerization, autophosphorylation and signal transduction |
| Gene Name | FGFR10P2 |
| Location | 12p12.1 |
| Protein | Poorly known; expressed in various tissues; no significant homology to any known protein; comprises coiled-ciol domains |
| Result of the chromosomal anomaly |
| Description | 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 FGFR1's transcription is centromere to telomere, implying an inversion |
| Description | The 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. |
| External links |
| Other database | t(8;12)(p12;p11) | Mitelman database (CGAP - NCBI) | |
| Other database | ins(12;8)(p11;p12p22) | Mitelman database (CGAP - NCBI) |
| 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 |
| Identification of a novel gene, FGFR1OP2, fused to FGFR1 in 8p11 myeloproliferative syndrome. |
| Grand EK, Grand FH, Chase AJ, Ross FM, Corcoran MM, Oscier DG, Cross NC. |
| Genes Chromosomes Cancer. 2004 May;40(1):78-83. |
| PMID 15034873 |
| Contributor(s) |
| Written | 12-2007 | Jean-Loup Huret |
| Jean Loup HURET, Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France |
| Citation |
| This paper should be referenced as such : |
| Huret JL . t(8;12)(p12;p11); ins(12;8)(p11;p12p22). Atlas Genet Cytogenet Oncol Haematol. December 2007 . URL : http://AtlasGeneticsOncology.org/Anomalies/t0812p12p11ID1330.html |
This paper is referenced by INIST as such : |
| http://documents.irevues.inist.fr/bitstream/2042/44392/1/12-2007-t0812p12p11ID1330.pdf [ Bibliographic record ] |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Mar 9 12:37:30 CET 2013 |
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