Atlas of Genetics and Cytogenetics in Oncology and Haematology
t(8;22)(p11;q11)
| Identity |
 | |
| it(8;22)(p11;q11) G- banding - Courtesy Jean-Luc Lai (left), Courtesy Diane H Norback, Eric B Johnson, and Sara Morrison-Delap, UW Cytogenetic Services (right). | |
| Clinics and Pathology |
| Disease | Described in only 3 cases, all of whom had a CML-like (chronic myelogenous leukemia-like) disease. Two had also had an excesss of B-lymphocytes in the marrow. |
| Phenotype / cell stem origin | Involvement of both myeloid and lymphoid cells, so likely to be a stem cell. disorder |
| Evolution | At the time of writing, one patient had undergone myeloid transformation and a second patient underwent lymphoid transformation followed shortly by myeloid transformation. In common with other patients with FGFR1 fusion genes, the disease therefore appears to be aggressive. |
| Cytogenetics |
| Cytogenetics Morphological | All three patients had a t(8;22)(p11;q11) identified by cytogenetics. |
| Genes involved and Proteins |
| Gene Name | FGFR1 (fibroblast growth factor reeceptor 1) |
| Location | 8p11 |
| Protein | Receptor tyrosine kinase for FGF ligands, also involved in the t(6;8)(q27;p12), t(8;9)(p12;q32-34) and t(8;13)(p12;q12) |
| Gene Name | BCR (breakpoint cluster region) |
| Location | 22q11 |
| Protein | Normal function unclear; fuses to ABL in CML . |
| Result of the chromosomal anomaly |
| Description | 5'BCR - 3'FGFR1 |
| Transcript | All three patients has BCR exon 4 fused to FGFR1 exon 9 |
| Detection | RT-PCR or FISH |
| Description | Contains the coiled-coil domain of BCR, the BCR Y177 Grb2 binding site and the entire tyrosine kinase domain of FGFR1. |
| Oncogenesis | Analogous to BCR-ABL: constitutive activation of FGFR1 tyrosine kinase. Transforms Ba/F3 cells to IL-3 independence. Transformed cells are not affected by imatinib (Gleevec/Glivec/STI571) but are inhibited by compounds with anti-FGFR activity. |
| External links |
| Other database | t(8;22)(p11;q11) | 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 |
| The t(8;22) in chronic myeloid leukemia fuses BCR to FGFR1: transforming activity and specific inhibition of FGFR1 fusion proteins. |
| Demiroglu A, Steer EJ, Heath C, Taylor K, Bentley M, Allen SL, Koduru P, Brody JP, Hawson G, Rodwell R, Doody ML, Carnicero F, Reiter A, Goldman JM, Melo JV, Cross NC |
| Blood. 2001 ; 98 (13) : 3778-3783. |
| PMID 11739186 |
| Fusion of the BCR and the fibroblast growth factor receptor-1 (FGFR1) genes as a result of t(8;22)(p11;q11) in a myeloproliferative disorder: the first fusion gene involving BCR but not ABL. |
| Fioretos T, Panagopoulos I, Lassen C, Swedin A, Billstrm R, Isaksson M, Strmbeck B, Olofsson T, Mitelman F, Johansson B |
| Genes, chromosomes & cancer. 2001 ; 32 (4) : 302-310. |
| PMID 11746971 |
| Contributor(s) |
| Written | 01-2002 | Nicholas C P Cross |
| Citation |
| This paper should be referenced as such : |
| Cross NCP . t(8;22)(p11;q11). Atlas Genet Cytogenet Oncol Haematol. January 2002 . URL : http://AtlasGeneticsOncology.org/Anomalies/t0822p11q11ID1224.html |
This paper is referenced by INIST as such : |
| http://documents.irevues.inist.fr/bitstream/2042/37845/1/01-2002-t0822p11q11ID1224.pdf [ Bibliographic record ] |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Mar 9 12:37:35 CET 2013 |
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