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t(2;17)(p23;q25) RNF213/ALK

Written2003-08Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

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Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
Atlas_Id 1289

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;q25) 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 53 yrs old man.

    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 RNF213
    Location 17q25

    Result of the chromosomal anomaly

    Hybrid gene
    Description 5' ALO17 - 3' ALK
      
    Fusion Protein
    Description N term ALO17 fused to the 562 C-term amino acids from ALK (i.e. the entire cytoplasmic portion of ALK with the tyrosine kinase domain)
    Expression Localisation cytoplasmic localisation (in contrast with the t(2;5)(p23;q35) with NPM1-ALK, which localizes both in the cytoplasm and in the nucleus).
      

    Bibliography

    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
     
    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..
     
    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
     
    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
     
    CD30(+) anaplastic large cell lymphoma: a review of its histopathologic, genetic, and clinical features.
    Stein H, Foss HD, Dürkop H, Marafioti T, Delsol G, Pulford K, Pileri S, Falini B
    Blood. 2000 ; 96 (12) : 3681-3695.
    PMID 11090048
     

    Citation

    This paper should be referenced as such :
    Huret, JL
    t(2;17)(p23;q25)
    Atlas Genet Cytogenet Oncol Haematol. 2003;7(4):270-271.
    Free journal version : [ pdf ]   [ DOI ]
    On line version : http://AtlasGeneticsOncology.org/Anomalies/t0217p23q25ID1289.html

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

    Genes ALK RNF213

    Translocations implicated (Data extracted from papers in the Atlas)

     t(2;17)(p23;q25) RNF213/ALK

    External links

    arrayMap (UZH-SIB Zurich)RNF213 (17q25.3) ALK (2p23.2)

    RNF213 (17q25.3) ALK (2p23.2)

    Mitelman databaset(2;17)(p23;q25) [Case List]    t(2;17)(p23;q25) [Association List] Mitelman database (CGAP - NCBI)
    arrayMap[select an item]
     
    Mitelman databaseRNF213/ALK [MCList]  RNF213 (17q25.3) ALK (2p23.2)
    TICdbRNF213/ALK  RNF213 (17q25.3) ALK (2p23.2)
     
    Disease databaset(2;17)(p23;q25) RNF213/ALK
    REVIEW articlesautomatic search in PubMed
    Last year articlesautomatic search in PubMed
    All articlesautomatic search in PubMed


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