t(4;11)(q35;q23) KMT2A/SORBS2
2007-11-01 Jean-Loup Huret Affiliation1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
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 (sorbin and SH3 domain containing 2)
Location
4q35.1
Note
This gene is better known under the name ArgBP2.
Protein description
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
KMT2A (myeloid/lymphoid or mixed lineage leukemia)
Location
11q23.3
Protein description
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.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 16628191 | 2006 | ArgBP2, encoding a negative regulator of ABL, is fused to MLL in a case of infant M5 acute myeloid leukemia involving 4q35 and 11q23. | Pession A et al |
| 15659545 | 2005 | The Abl/Arg substrate ArgBP2/nArgBP2 coordinates the function of multiple regulatory mechanisms converging on the actin cytoskeleton. | Cestra G et al |
| 10521485 | 1999 | 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 et al |
| 921190 | 1977 | [Natural transmission of Schistosoma mansoni in Guadeloupe (French Antilles). Preliminary note (author's transl)]. | Golvan YJ et al |
Summary
Fusion gene
KMT2A/SORBS2 KMT2A (11q23.3) SORBS2 (4q35.1) COF 1839 1840|KMT2A/SORBS2 KMT2A (11q23.3) SORBS2 (4q35.1) TIC
Citation
Jean-Loup Huret
t(4;11)(q35;q23) KMT2A/SORBS2
Atlas Genet Cytogenet Oncol Haematol. 2007-11-01
Online version: http://atlasgeneticsoncology.org/haematological/1423/t(4;11)(q35;q23)-kmt2a-sorbs2
