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t(2;17)(p23;q23)

Clinics and Pathology

Disease
  • Anaplasic large cell lymphoma: translocations involving 2p23 are found in more than half cases of anaplasic large cell lymphoma (ALCL), a high grade non Hodgkin lymphoma (NHL). They involve ALK, and are therefore called ALK+ ALCL.
  • The most frequent ALK+ ALCL being the the t(2;5)(p23;q35) with NPM1 -ALK fusion protein, which localises both in the cytoplasm and in the nucleus.
  • The t(2;17)(p23;q23) has so far been described in only 1 case, and, like other t(2;Var) involving various partners and ALK, the fusion protein has a cytoplasmic localization; they are therefore called "cytoplasm only" ALK+ ALCL.
    • Clinics ALK+ ALCL without the t(2;5) (so called cytoplasmic only ALK cases) show clinical features similar to those of classical ALK+ ALCL: young age, male predominance, presentation with advanced disease, systemic symptoms, frequent involvement of extranodal sites, and a good prognosis. The t(2;17) case was that of a 14 yrs old girl.

    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 CLTC
    Location 17q23
    Protein 1675 amino acids, 191 kDa; component of the vesicles matrix originated from the plasma membrane or the golgi

    Result of the chromosomal anomaly

    Hybrid gene
    Description 5' CLTC - 3' ALK
      
    Fusion Protein
    Description the 1634 N term amino acids from CLTC fused to the 562 C-term amino acids from ALK (i.e. the entire cytoplasmic portion of ALK with the tyrosine kinase domain)
      

    External links

    Other databaset(2;17)(p23;q23) Mitelman database (CGAP - NCBI)
    Other databaset(2;17)(p23;q23) CancerChromosomes (NCBI)

    Bibliography

    CD30(+) anaplastic large cell lymphoma: a review of its histopathologic, genetic, and clinical features.
    Stein H, Foss HD, Dˆºrkop H, Marafioti T, Delsol G, Pulford K, Pileri S, Falini B
    Blood. 2000 ; 96 (12) : 3681-3695.
    PMID 11090048
     
    Pathobiology of NPM-ALK and variant fusion genes in anaplastic large cell lymphoma and other lymphomas.
    Drexler HG, Gignac SM, von Wasielewski R, Werner M, Dirks WG
    Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2000 ; 14 (9) : 1533-1559.
    PMID 10994999
     
    Anaplastic large cell lymphomas, Primary systemic (T/Null cell type).
    Delsol G, Ralfkiaer E, Stein H, Wright D, Jaffe E
    World Health Organization (WHO) Classification of Tumors..
     
    Alk+ CD30+ lymphomas: a distinct molecular genetic subtype of non-Hodgkin's lymphoma.
    Morris SW, Xue L, Ma Z, Kinney MC
    British journal of haematology. 2001 ; 113 (2) : 275-295.
    PMID 11380391
     
    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
     

    Contributor(s)

    Written08-2003Jean-Loup Huret

    Citation

    This paper should be referenced as such :
    Huret JL . t(2;17)(p23;q23). Atlas Genet Cytogenet Oncol Haematol. August 2003 .
    URL : http://AtlasGeneticsOncology.org/Genes/t0217p23q23ID1290.html

    © Atlas of Genetics and Cytogenetics in Oncology and Haematology
    indexed on : Mon Aug 11 21:19:53 2008

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