Tn-syndrome

Biochim Biophys Acta. 1999 Oct 8;1455(2-3):255-68. doi: 10.1016/s0925-4439(99)00069-1.

Abstract

The idiopathic Tn-syndrome, formerly called 'permanent mixed-field polyagglutinability', is a rare hematological disorder characterized by the expression of the Tn-antigen on all blood cell lineages. The immunodominant epitope of the Tn-antigen is terminal alpha-N-acetylgalactosamine, O-glycosidically linked to protein. Normally this residue is 3'-substituted by 5-galactose thereby forming the core 1 structure known as the Thomsen-Friedenreich (TF) antigen (Galbeta1 ==> 3GalNAcalpha1 ==> Thr/Ser). The cause of the exposure of the Tn-antigen appears to be due to the silencing of the gene expression of beta1,3galactosyltransferase, since treatment of deficient Tn(+) lymphocyte T clones with 5'azacytidine or Na butyrate leads to reexpression of enzyme activity and the sialylated TF-antigen. The Tn-syndrome is acquired and permanent and affects both sexes at any age. Its origin is unknown. Pluripotent stem cells are affected since all lineages are involved but each one to a variable extent. Therefore, normal cells co-exist with Tn-transformed cells. Clinically, patients suffering from the Tn-syndrome appear healthy. Laboratory findings usually reveal moderate thrombocyto- and leukopenia and some signs of hemolytic anemia not warranting any treatment.

Publication types

  • Review

MeSH terms

  • Anemia, Hemolytic / immunology
  • Antibodies, Monoclonal
  • Antigens, Neoplasm / chemistry
  • Antigens, Neoplasm / immunology
  • Antigens, Tumor-Associated, Carbohydrate / chemistry
  • Antigens, Tumor-Associated, Carbohydrate / immunology*
  • Azacitidine
  • Blood Cells / immunology*
  • Erythrocyte Membrane / immunology
  • Galactosyltransferases / deficiency
  • Hematologic Diseases / enzymology
  • Hematologic Diseases / immunology*
  • Hematologic Diseases / pathology
  • Humans
  • Lectins
  • Leukopenia / immunology
  • Molecular Structure
  • Syndrome
  • Thrombocytopenia / immunology

Substances

  • Antibodies, Monoclonal
  • Antigens, Neoplasm
  • Antigens, Tumor-Associated, Carbohydrate
  • Lectins
  • Tn antigen
  • sialosyl-Tn antigen
  • Thomsen-Friedenreich antigen
  • Galactosyltransferases
  • glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase
  • Azacitidine