Atlas of Genetics and Cytogenetics in Oncology and Haematology

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

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)


Atlas_Id 1220

Clinics and Pathology

  • 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 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
    Gene NameCLTCL1 (clathrin heavy polypeptide-like 1)
    Location 22q11.21
    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.


    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


    This paper should be referenced as such :
    Huret, JL
    Atlas Genet Cytogenet Oncol Haematol. 2001;5(4):286-287.
    Free journal version : [ pdf ]   [ DOI ]
    On line version :

    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

    CLTCL1 (22q11.21) ALK (2p23.2)

    Mitelman databaset(2;22)(p23;q11)
    arrayMap (UZH-SIB Zurich)[select an item]
    Mitelman databaseCLTCL1::ALK [MCList]  CLTCL1 (22q11.21) ALK (2p23.2)
    REVIEW articlesautomatic search in PubMed
    Last year articlesautomatic search in PubMed
    All articlesautomatic search in PubMed

    © Atlas of Genetics and Cytogenetics in Oncology and Haematology
    indexed on : Fri Oct 8 16:36:20 CEST 2021

    Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

    For comments and suggestions or contributions, please contact us