Tn-syndrome

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

卷:1455

Review

Berger, EG

关键词: galactosyltransferase;    polyagglutinability;    thrombocytopenia;    Thomsen-Friedenreich antigen;   

DOI  :  10.1016/S0925-4439(99)00069-1

来源: Elsevier

【 摘 要 】

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 P-galactose thereby forming the core 1 structure known as the Thomsen-Friedenreich (TF) antigen (Gal beta 1 double right arrow 3GalNAc alpha 1 double right arrow Thr/Ser). The cause of the exposure of the Tn-antigen appears to be due to the silencing of the gene expression of beta 1, 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. (C) 1999 Elsevier Science B.V. All rights reserved.

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