| Clinics and Pathology |
| Disease | Acute myeloid leukemia (AML) |
| Epidemiology | Only one case to date, a 3 month-old girl with M5 AML. |
| Prognosis | No data. |
| Genes involved and Proteins |
| Gene Name | SORBS2 |
| Location | 4q35.1 |
| Note | This gene is better known under the name ArgBP2. |
| Protein | From N-term to C-term, the protein contains a sorbin homology (SoHo) domain and three SH3 domains. Adaptor protein. Binds signaling proteins like ABL1 and ABL2, AKT and PAK1, and various cytoskeletal proteins, including vinculin, alpha actinin, spectrin. Role in cytoskeleton organization, lipid rafts, and signaling. |
| Gene Name | MLL |
| Location | 11q23 |
| Protein | Transcription regulator (yin/yang?), regulates, among others, HOX genes expression. --> Hematopoiesis and embryogenesis regulation. |
| Result of the chromosomal anomaly |
| Description | 5' MLL - 3' SORBS2 |
| Transcript | Fusion transcript of MLL exon 7 to SORBS2 exon 19; the reciprocal was not detected. |
| Description | N-term AT hook and methyl transferase domains from MLL, fused to the third and last C-term SH3 domain of SORBS2. |
| Expression Localisation | The MLL-SORBS2 hybrid localizes to the nucleus with a punctate pattern characteristic of MLL chimeric proteins. |
| External links |
| Other database | t(4;11)(q35;q23) | Mitelman database (CGAP - NCBI) | |
| Other database | t(4;11)(q35;q23) | 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 |
| ArgBP2, a multiple Src homology 3 domain-containing, Arg/Abl-interacting protein, is phosphorylated in v-Abl-transformed cells and localized in stress fibers and cardiocyte Z-disks. |
| Wang B, Golemis EA, Kruh GD. |
| J Biol Chem. 1997 Jul 11; 272(28): 17542-50. |
| PMID 921190 |
| nArgBP2, a novel neural member of ponsin/ArgBP2/vinexin family that interacts with synapse-associated protein 90/postsynaptic density-95-associated protein (SAPAP). |
| Kawabe H, Hata Y, Takeuchi M, Ide N, Mizoguchi A, Takai Y. |
| J Biol Chem. 1999 Oct 22; 274(43): 30914-8. |
| PMID 10521485 |
| The Abl/Arg substrate ArgBP2/nArgBP2 coordinates the function of multiple regulatory mechanisms converging on the actin cytoskeleton. |
| Cestra G, Toomre D, Chang S, De Camilli P. |
| Proc Natl Acad Sci U S A. 2005 Feb 1; 102(5): 1731-6. |
| PMID 15659545 |
| Pession A, Lo Nigro L, Montemurro L, Serravalle S, Fazzina R, Izzi G, Nucifora G, Slany R, Tonelli R. |
| ArgBP2, encoding a negative regulator of ABL, is fused to MLL in a case of infant M5 acute myeloid leukemia involving 4q35 and 11q23. |
| Leukemia. 2006 Jul; 20(7): 1310-3. |
| PMID 16628191 |
| Contributor(s) |
| Written | 11-2007 | 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(4;11)(q35;q23). Atlas Genet Cytogenet Oncol Haematol. November 2007 . URL : http://AtlasGeneticsOncology.org/Genes/t0411q35q23ID1423.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Dec 6 18:02:33 2008 |
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