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t(4;11)(q35;q23) KMT2A/SORBS2

Written2007-11Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
ICD-Morpho 9807/3 Mixed phenotype acute leukaemia with t(v;11q23); MLL rearranged
ICD-Morpho 9813/3 B lymphoblastic leukaemia/lymphoma with t(v;11q23); MLL rearranged
ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
Atlas_Id 1423

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 KMT2A
Location 11q23
Protein Transcription regulator (yin/yang?), regulates, among others, HOX genes expression. --> Hematopoiesis and embryogenesis regulation.

Result of the chromosomal anomaly

Hybrid gene
Description 5' MLL - 3' SORBS2
Transcript Fusion transcript of MLL exon 7 to SORBS2 exon 19; the reciprocal was not detected.
  
Fusion Protein
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.
  

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

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
 
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
 
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
 
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
 

Citation

This paper should be referenced as such :
Huret, JL
t(4;11)(q35;q23)
Atlas Genet Cytogenet Oncol Haematol. 2008;12(6):461-462.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0411q35q23ID1423.html


Other genes implicated (Data extracted from papers in the Atlas) [ 2 ]

Genes KMT2A SORBS2

Translocations implicated (Data extracted from papers in the Atlas)

 t(4;11)(q35;q23) KMT2A/SORBS2

External links

KMT2A (11q23.3) SORBS2 (4q35.1)

KMT2A (11q23.3) SORBS2 (4q35.1)

Mitelman databaset(4;11)(q35;q23) [Case List]    t(4;11)(q35;q23) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9807/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9813/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9861/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
COSMIC_fusionKMT2A/SORBS2 KMT2A (11q23.3) SORBS2 (4q35.1)   [fusion1839]   [fusion1840]  
TICdbKMT2A/SORBS2  KMT2A (11q23.3) SORBS2 (4q35.1)
 
Disease databaset(4;11)(q35;q23) KMT2A/SORBS2
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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