Novel BLIMP1/PRDM1 gene mutations in B-cell lymphoma

被引：10

作者：

Tate, Genshu ^{[1
]}

Hirayama-Ohashi, Yoshiko ^{[1
]}

Kishimoto, Koji ^{[1
]}

Mitsuya, Toshiyuki ^{[1
]}

机构：

[1] Showa Univ Fujigaoka Hosp, Dept Surg Pathol, Aoba Ku, Yokohama, Kanagawa 2278501, Japan

来源：

CANCER GENETICS AND CYTOGENETICS | 2007年 / 172卷 / 02期

关键词：

D O I：

10.1016/j.cancergencyto.2006.08.005

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

B lymphocyte-induced maturation protein 1(BLIMP1)/PR domain containing I 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 imitations in the BLIMP1 acne 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 ill diffuse large B-cell lymphoma a single base substitution in exon 6 (1747C -> T) that Iresults in a somatic nonsense Mutation (Q583X). These findings indicate that mutational analysis of the BLIMP1 gene may he Useful for characterizing the molecular basis of B-cell lymphoma. (c) 2007 Elsevier Inc. All rights reserved.

引用

页码：151 / 153

页数：3

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