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t(2;22)(p23;q11) CLTCL1/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 1220

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.
  • The t(2;22)(p23;Q11.2) is very rare, 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. However, in case of a t(2;22) the localization is restricted to granules (vesicles) in the cytoplasm.
  • Phenotype / cell stem origin CD30+; ALK+
    Clinics found in 1 case ( a 3 yr old girl in complete remission 1yr after end of treatment), perhaps 2 (a 52 yr 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 CLTCL1
    Location 22q11.2
    Protein 1640 amino acids, 187 kDa; component of the coat of vesicles originated from the plasma membrane or the golgi

    Result of the chromosomal anomaly

    Hybrid gene
    Description 5' CLTCL1 - 3' ALK
      
    Fusion Protein
    Description 2197 amino acids, 248-250 kDa; 1634 (nearly all the CLTCL1 protein) N-term amino acids from CLTCL1, 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 localization restricted to granules
    Oncogenesis constitutive autophosphorylation
      

    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
     
    Characterization of a second human clathrin heavy chain polypeptide gene (CLH-22) from chromosome 22q11.
    Kedra D, Peyrard M, Fransson I, Collins JE, Dunham I, Roe BA, Dumanski JP
    Human molecular genetics. 1996 ; 5 (5) : 625-631.
    PMID 8733129
     
    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
     
    Further demonstration of the diversity of chromosomal changes involving 2p23 in ALK-positive lymphoma: 2 cases expressing ALK kinase fused to CLTCL (clathrin chain polypeptide-like).
    Touriol C, Greenland C, Lamant L, Pulford K, Bernard F, Rousset T, Mason DY, Delsol G
    Blood. 2000 ; 95 (10) : 3204-3207.
    PMID 10807789
     

    Citation

    This paper should be referenced as such :
    Huret, JL
    t(2;22)(p23;q11.2)
    Atlas Genet Cytogenet Oncol Haematol. 2001;5(4):286-287.
    Free journal version : [ pdf ]   [ DOI ]
    On line version : http://AtlasGeneticsOncology.org/Anomalies/t0222ID1220.html


    Other genes implicated (Data extracted from papers in the Atlas) [ 1 ]

    Genes CLTCL1

    Translocations implicated (Data extracted from papers in the Atlas)

     t(2;22)(p23;q11) CLTCL1/ALK

    External links

    arrayMap (UZH-SIB Zurich)CLTCL1 (22q11.21) ALK (2p23.2)

    Mitelman databaset(2;22)(p23;q11) [Case List]    t(2;22)(p23;q11) [Association List] Mitelman database (CGAP - NCBI)
    arrayMap[select an item]
     
    Mitelman databaseCLTCL1/ALK [MCList]  CLTCL1 (22q11.21) ALK (2p23.2)
     
    Disease databaset(2;22)(p23;q11) CLTCL1/ALK
    REVIEW articlesautomatic search in PubMed
    Last year articlesautomatic search in PubMed
    All articlesautomatic search in PubMed


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