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

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

Written2007-12Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
ICD-Morpho 9967/3 Myeloid and lymphoid neoplasms with FGFR1 rearrangement
ICD-Morpho 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable
Atlas_Id 1330

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 NameFGFR1 (Fibroblast Growth Factor Receptor 1)
Location 8p11.23
Protein FGF receptor with tyrosine kinase activity; binding of ligand induces receptor dimerization, autophosphorylation and signal transduction
Gene NameFGFR1OP2 (FGFR1 oncogene partner 2)
Location 12p11.23
Protein Poorly known; expressed in various tissues; no significant homology to any known protein; comprises coiled-ciol domains

Result of the chromosomal anomaly

Hybrid gene
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
  
Fusion Protein
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.
  

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
 

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. 2009;13(1):80-80.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0812p12p11ID1330.html


Other genes implicated (Data extracted from papers in the Atlas) [ 1 ]

Genes FGFR1

Translocations implicated (Data extracted from papers in the Atlas)

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

External links

FGFR1OP2 (12p11.23) FGFR1 (8p11.23)

FGFR1OP2 (12p11.23) FGFR1 (8p11.23)

FGFR1OP2 (12p11.23) FGFR1 (8p11.23)

Mitelman databaseins(12;8)(p11;p12p22) [Case List]    ins(12;8)(p11;p12p22) [Association List] Mitelman database (CGAP - NCBI)
Mitelman databaset(8;12)(p12;p11) [Case List]    t(8;12)(p12;p11) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9967/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9975/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
Mitelman databaseFGFR1OP2/FGFR1 [MCList]  FGFR1OP2 (12p11.23) FGFR1 (8p11.23)
Mitelman databaseFGFR1OP2/FGFR1 [MCList]  FGFR1OP2 (12p11.23) FGFR1 (8p11.23)
TICdbFGFR1OP2/FGFR1  FGFR1OP2 (12p11.23) FGFR1 (8p11.23)
 
Disease databaset(8;12)(p12;p11) FGFR1OP2/FGFR1
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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