| Clinics and Pathology |
| Disease | acute leukaemias; poorly known: only 3 available cases, and with different phenotypes: a T-cell ALL, a CD10+-ALL, and a 'CML-like' disease in transformation; all 3 were male patients |
| Genes involved and Proteins |
| Gene Name | JAK2 |
| Location | 9p24 |
| Dna / Rna | 24 exons |
| Protein | tyrosine kinase; possibly membrane associated; signal transduction |
| Gene Name | ETV6 |
| Location | 12p13 |
| Dna / Rna | 9 exons; alternate splicing |
| Protein | contains a Helix-Loop-Helix and ETS DNA binding domains; wide expression; nuclear localisation; ETS-related transcription factor. |
| Result of the chromosomal anomaly |
| Description | 5' ETV6 - 3' JAK2 |
| Description | N-term- HLH oligomerization domain from ETV6 fused to the tyrosine kinase c-term domains of JAK2 (or even starting with the JH2); the reciprocal JAK2-ETV6 may not be expressed |
| Oncogenesis | it may be speculated that the HLH domain of ETV6 induces oligomerization, resulting in constitutive activation of the kinase domain of JAK2 |
| External links |
| Other database | t(9;12)(p24;p13) | Mitelman database (CGAP - NCBI) | |
| Other database | t(9;12)(p24;p13) | 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 |
| Fusion of TEL, the ETS-variant gene 6 (ETV6), to the receptor-associated kinase JAK2 as a result of t(9;12) in a lymphoid and t(9;15;12) in a myeloid leukemia. |
| Peeters P, Raynaud SD, Cools J, Wlodarska I, Grosgeorge J, Philip P, Monpoux F, Van Rompaey L, Baens M, Van den Berghe H, Marynen P |
| Blood. 1997 ; 90 (7) : 2535-2540. |
| PMID 9326218 |
| A TEL-JAK2 fusion protein with constitutive kinase activity in human leukemia. |
| Lacronique V, Boureux A, Valle VD, Poirel H, Quang CT, Mauchauffˆ© M, Berthou C, Lessard M, Berger R, Ghysdael J, Bernard OA |
| Science (New York, N.Y.). 1997 ; 278 (5341) : 1309-1312. |
| PMID 9360930 |
| Contributor(s) |
| Written | 02-1998 | Jean-Loup Huret |
| Citation |
| This paper should be referenced as such : |
| Huret JL . t(9;12)(p24;p13). Atlas Genet Cytogenet Oncol Haematol. February 1998 . URL : http://AtlasGeneticsOncology.org/Anomalies/1122t0912.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon May 12 18:11:05 2008 |
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