Cancer Report

Cancer : t(2;22)(p23;q11.2)
Summary
Cancer Name t(2;22)(p23;q11.2)
 
Clinics and Pathology
Disease
  • Anaplasic large cell lymphoma (ALCL): 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) 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.
  •  
    Related Genes
    Gene Symbol MYH9
    Description " codes for the non-muscle myosin II, heavy chain type A. Non-muscle myosin II is involved in motility and cell division " " The autosomal dominant giant-platelet disorders, May-Hegglin anomaly (MHA), Fechtner syndrome?FTNS), and Sebastian syndrome (SBS), which share a triad of thrombocytopenia, large platelets (macrothrombocytopenia (MTCP)) and characteristic leukocyte inclusions (Dohle-like bodies), Epstein syndrome, which associates additional Alport-like clinical features (inherited?ensorineural deafness, cataracts, nephritis), and MTCP without leukocyte inclusions, as well as a nonsyndromic hereditary hearing impairment are all caused by (germinal) mutations in MYH9. These disorders appear to represent a class of allelic disorders with variable phenotypic diversity. No clear no genotype-phenotype correlation was identified "
     
    Gene Symbol ALK
    Description "1620 amino acids; 177 kDa; glycoprotein (200 kDa mature protein) ; membrane associated tyrosine kinase receptorfound in a case of ALK+ http://atlasgeneticsoncology.org/Anomalies/AnaplLargeCelLymphID2103.html, anaplasic large cell lymphoma"
     
    Gene Symbol CLTCL1
    Description "found in a case of ALK+ http://atlasgeneticsoncology.org/Anomalies/AnaplLargeCelLymphID2103.html, anaplasic large cell lymphoma"
     
    Bibliography
    Title Anaplastic large cell lymphomas, Primary systemic (T/Null cell type).
    Authors Delsol G, Ralfkiaer E, Stein H, Wright D, Jaffe E.
    Citations World Health Organization (WHO) Classification of Tumors. Pathology and Genetics of tumours of Haematopoietic and Lymphoid Tissues . 2001 pp 230-235.
    PubMedID 11550288
     
    Title Alk+ CD30+ lymphomas: a distinct molecular genetic subtype of non-Hodgkin's lymphoma.
    Authors Morris SW, Xue L, Ma Z, Kinney MC.
    Citations Br J Haematol 2001; 113: 275-295.
    PubMedID 11550288
     
    Title CD30+ anaplastic large cell lymphoma: a review of its histopathologic, genetic, and clinical features
    Authors Stein H, Foss HD, Durkop H, Marafioti T, Delsol G, Pulford K, Pileri S, Falini B.
    Citations Blood 2000; 96: 3681-3695.
    PubMedID 21275125
     
    Title Non-muscle myosin heavy chain (MYH9): a new partner fused to ALK in anaplastic large cell lymphoma.
    Authors Lamant L, Gascoyne RD, Duplantier MM, Armstrong F, Raghab A, Chhanabhai M, Rajcan-Separovic E, Raghab J, Delsol G, Espinos E.
    Citations Genes Chromosomes Cancer 2003; 37: 427-432.
    PubMedID 21275125
     
    Title Pathobiology of NPM-ALK and variant fusion genes in anaplastic large cell lymphoma and other lymphomas.
    Authors Drexler HG, Gignac SM, von Wasielewski R, Werner M, Dirks WG.
    Citations Leukemia 2000; 14: 1533-1559.
    PubMedID 12800156
     
    Source and Citation
    Source Atlas of Genetics and Cytogenetics in Oncology and Haematology
    Citation Huret JL . t(2;22)(p23;q11.2). Atlas Genet Cytogenet Oncol Haematol. August 2003 .
    URL : http://AtlasGeneticsOncology.org/Anomalies/t0222p23q11D1291.html
    URL http://AtlasGeneticsOncology.org/Anomalies/t0222p23q11D1291.html