title: Novel BLIMP1/PRDM1 gene mutations in B-cell lymphoma.
abstract: B lymphocyte-induced maturation protein 1 (BLIMP1)/PR domain containing 1 with zinc finger domain (PRDM1) is a transcriptional repressor with a SET domain and Kruppel-type zinc fingers. BLIMP1/PRDM1 is expressed in a subset of germinal center B cells and in all plasma cells, and it is required for terminal B-cell differentiation. Mutations of the BLIMP1 gene have been reported in patients with diffuse large B-cell lymphoma. Here, we describe novel mutations in the BLIMP1 gene in 2 of 15 (13%) cases of B-cell lymphoma (two cases of primary effusion lymphoma and 13 cases of diffuse large B-cell lymphoma). A tandem 10-base pair duplication (5'-GCTGAGTTTG-3') was found in exon 2 of the BLIMP1 gene in primary effusion B-cell lymphoma. We also found in diffuse large B-cell lymphoma a single base substitution in exon 6 (1747C-->T) that results in a somatic nonsense mutation (Q583X). These findings indicate that mutational analysis of the BLIMP1 gene may be useful for characterizing the molecular basis of B-cell lymphoma.
authors.affiliation: Department of Surgical Pathology, Showa University Fujigaoka Hospital, Fujigaoka 1-30, Aoba-ku, Yokohama 227-8501, Japan. gentate@yahoo.co.jp
authors.forename: Genshu
authors.initials: G
authors.lastname: Tate
authors.forename: Yoshiko
authors.initials: Y
authors.lastname: Hirayama-Ohashi
authors.forename: Koji
authors.initials: K
authors.lastname: Kishimoto
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Mitsuya
mesh_terms: D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D020440:Gene Duplication; D006801:Humans; D016393:Lymphoma, B-Cell / Q000235:genetics* / Q000473:pathology; D016403:Lymphoma, Large B-Cell, Diffuse / Q000235:genetics* / Q000473:pathology; D010490:Pericardial Effusion / Q000235:genetics* / Q000473:pathology; D017354:Point Mutation; D000074462:Positive Regulatory Domain I-Binding Factor 1; D012097:Repressor Proteins / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D012097:Repressor Proteins; D014157:Transcription Factors; C087042:PRDM1 protein, human; D000074462:Positive Regulatory Domain I-Binding Factor 1