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t(X;2)(q11;p23) MSN/ALK

Written2001-08Jean-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
Atlas_Id 1216

Clinics and Pathology

Disease
  • 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.
  • In translocations other than the t(2;5), i.e. in t(2;Var) involving various partners and ALK, the fusion protein has a cytoplasmic localization; they are therefore called "cytoplasm only" ALK+ ALCL. However, in case of a t(X;2) the localization is restricted to the membrane.The t(X;22)(q11;p23) is very rare.
    • Phenotype / cell stem origin CD30+; ALK+
    Clinics only 1 case to date: a 18 yr old man
    Prognosis unknown: the patient achieved remission, but died of an unrelated cause

    Genes involved and Proteins

    Gene NameMSN (moesin)
    Location Xq12
    Protein 576 amino acids, 75 kDa; cytoskeleton protein; binds to the plasma membrane and interacts with actin.
    Gene NameALK (anaplastic lymphoma receptor tyrosine kinase)
    Location 2p23.2
    Protein 1620 amino acids; 177 kDa; glycoprotein (200 kDa mature protein) ; membrane associated tyrosine kinase receptor

    Result of the chromosomal anomaly

    Hybrid gene
    Description 5' MSN - 3' ALK. The breakpoint in ALK is different (17 bp downstream) from that observed in NPM1-ALK and other hybrid genes.
      
    Fusion Protein
    Description 1005 amino acids, 125 kDa; 448 N-term amino acid from MSN, containing the band 4.1 like domain and most of the alpha helix domain, fused to the 557 (instead of the usual 562) C-term amino acids from ALK (i.e. the cytoplasmic portion of ALK with the tyrosine kinase domain).
    Expression Localisation membrane restricted, in contrast with the t(2;5)(p23;q35) with NPM1-ALK, which localizes both in the cytoplasm and in the nucleus, and with other "variant ALK+" which have a cytoplasmic localisation.
    Oncogenesis tyrosine kinase activity.
      

    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

    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
     
    Molecular characterization of a new ALK translocation involving moesin (MSN-ALK) in anaplastic large cell lymphoma.
    Tort F, Pinyol M, Pulford K, Roncador G, Hernandez L, Nayach I, Kluin-Nelemans HC, Kluin P, Touriol C, Delsol G, Mason D, Campo E
    Laboratory investigation; a journal of technical methods and pathology. 2001 ; 81 (3) : 419-426.
    PMID 11310834
     

    Citation

    This paper should be referenced as such :
    Huret, JL
    t(X;2)(q11;p23)
    Atlas Genet Cytogenet Oncol Haematol. 2001;5(4):288-289.
    Free journal version : [ pdf ]   [ DOI ]
    On line version : http://AtlasGeneticsOncology.org/Anomalies/t0X02ID1216.html

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

    Genes ALK MSN

    Translocations implicated (Data extracted from papers in the Atlas)

     t(X;2)(q11;p23) MSN/ALK

    External links

    MSN (Xq12) ALK (2p23.2)

    MSN (Xq12) ALK (2p23.2)

    MSN (Xq12) ALK (2p23.2)

    MSN (Xq12) ALK (2p23.2)

    Mitelman databaset(X;2)(q11;p23)
    arrayMap (UZH-SIB Zurich)[select an item]
     
    COSMIC_fusionMSN/ALK MSN (Xq12) ALK (2p23.2)   [fusion421]   [fusion422]   [fusion467]  
    Mitelman databaseMSN/ALK [MCList]  MSN (Xq12) ALK (2p23.2)
    Mitelman databaseMSN/ALK [MCList]  MSN (Xq12) ALK (2p23.2)
    TICdbMSN/ALK  MSN (Xq12) ALK (2p23.2)
     
    REVIEW articlesautomatic search in PubMed
    Last year articlesautomatic search in PubMed
    All articlesautomatic search in PubMed


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