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t(2;11)(p23;p15)

Clinics and Pathology

Disease Inflammatory myofibroblastic tumors
Clinics rare soft tissue tumour found in children and young adults
Pathology spindle cell proliferation with myofibroblastic differenciation and an inflammatory infiltrate
Cytogenetics The translocation was found complex: t(2;11;2)(p23;p15;q31)
Prognosis low malignant potential and good prognosis

Genes involved and Proteins

Gene Name ALK
Location 2p23
Protein 1620 amino acids; 177 kDa; glycoprotein (200 kDa mature protein) ; membrane associated tyrosine kinase receptor

Gene Name CARS
Location 11p15
Protein 748 amino acids, 85 kDa. Forms homodimers

Result of the chromosomal anomaly

Hybrid Gene
Description 5' CARS - 3' ALK
Fusion Protein
Description 606 N-term amino acid from CARS, fused to the 562 C-term amino acids from ALK (i.e. the entire cytoplasmic portion of ALK with the tyrosine kinase domain).
  

Bibliography

Fusion of ALK to the Ran-binding protein 2 (RANBP2) gene in inflammatory myofibroblastic tumor.
Ma Z, Hill DA, Collins MH, Morris SW, Sumegi J, Zhou M, Zuppan C, Bridge JA
Genes, chromosomes & cancer. 2003 ; 37 (1) : 98-105.
PMID 12661011
 
Recurrent involvement of 2p23 in inflammatory myofibroblastic tumors.
Griffin CA, Hawkins AL, Dvorak C, Henkle C, Ellingham T, Perlman EJ
Cancer research. 1999 ; 59 (12) : 2776-2780.
PMID 10383129
 
Aberrant ALK tyrosine kinase signaling. Different cellular lineages, common oncogenic mechanisms.
Ladanyi M
The American journal of pathology. 2000 ; 157 (2) : 341-345.
PMID 10934137
 
Identification of novel fusion partners of ALK, the anaplastic lymphoma kinase, in anaplastic large-cell lymphoma and inflammatory myofibroblastic tumor.
Cools J, Wlodarska I, Somers R, Mentens N, Pedeutour F, Maes B, De Wolf-Peeters C, Pauwels P, Hagemeijer A, Marynen P
Genes, chromosomes & cancer. 2002 ; 34 (4) : 354-362.
PMID 12112524
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Contributor(s)

Written08-2003Jean-Loup Huret

Citation

This paper should be referenced as such :
Huret JL . t(2;11)(p23;p15). Atlas Genet Cytogenet Oncol Haematol. August 2003 .
URL : http://AtlasGeneticsOncology.org/Genes/t0211p23p15ID5213.html

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indexed on : Thu Jul 17 10:18:01 2008


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