| Clinics and Pathology |
| Disease | 8p11 myelopreoliferative syndrome (EMS) |
| Phenotype / cell stem 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. |
| Cytogenetics |
| Additional anomalies | The t(8;12) was the sole anomaly. |
| Genes involved and Proteins |
| Gene Name | FGFR1 |
| Location | 8p12 |
| Protein | 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 |
| Location | 12q15 |
| Protein | 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. |
| Description | 895 amino acids protein (97 kDa) with the RRM domain of CPSF6, fused to the TK domain of FGFR1. |
| External links |
| Other database | t(8;12)(p12;q15) | Mitelman database (CGAP - NCBI) | |
| Other database | t(8;12)(p12;q15) | CancerChromosomes (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 four new translocations involving FGFR1 in myeloid disorders. |
| Sohal J, Chase A, Mould S, Corcoran M, Oscier D, Iqbal S, Parker S, Welborn J, Harris RI, Martinelli G, Montefusco V, Sinclair P, Wilkins BS, van den Berg H, Vanstraelen D, Goldman JM, Cross NC. |
| Genes Chromosomes Cancer. 2001 Oct;32(2):155-63. |
| PMID 11550283 |
| The 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, Chase A, Drachenberg M, Roberts MW, Finkelstein JZ, Mould S, Oscier D, Cross NC, Grand FH. |
| Genes Chromosomes Cancer. 2008 May;47(5):379-85. |
| PMID 18205209 |
| Contributor(s) |
| Written | 07-2008 | 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;q15). Atlas Genet Cytogenet Oncol Haematol. July 2008 . URL : http://AtlasGeneticsOncology.org/Anomalies/t0812p12q15ID1201.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Feb 6 15:46:03 CET 2010 |
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