人类外周B细胞淋巴瘤中BIK基因的突变

Mutations of the BIK gene in human peripheral B-cell lymphomas.

作者信息

Arena Vincenzo, Martini Maurizio, Luongo Myriam, Capelli Arnaldo, Larocca Luigi Maria

机构信息

Istituto di Anatomia Patologica, Università Cattolica del Sacro Cuore, Rome 00168, Italy.

出版信息

Genes Chromosomes Cancer. 2003 Sep;38(1):91-6. doi: 10.1002/gcc.10245.

DOI:10.1002/gcc.10245

PMID:12874789

Abstract

BIK, a BH (Bcl2 homology domain)3-only protein, is a proapoptotic member of the BCL2 family. We performed single-strand conformational polymorphism and sequencing analysis of the entire coding region of the BIK gene (exons 2-5) in 71 B-cell lymphomas [27 follicular lymphomas (FLs), 13 marginal cell lymphomas (MZLs), 7 small lymphocytic lymphomas (SLLs), 6 mantle cell lymphomas (MCLs), 2 lymphoplasmacytic lymphomas, and 16 diffuse large B-cell lymphomas (DLBCLs)]. Missense BIK gene mutations were observed in 3 of 27 (11%) FLs, in 2 of 13 (15%) MZLs, and in 1 of 16 (6%) DLBCLs. Sequence alterations in intronic regions were observed in 4 of 27 (14.8%) FLs, in 7 of 13 (53%) MZLs, and in 3 of 16 (18%) DLBCLs. These data indicate that mutation of the BIK gene is a frequent feature of B-cell lymphomas.

摘要

BIK是一种仅含BH（Bcl2同源结构域）3的蛋白，是BCL2家族的促凋亡成员。我们对71例B细胞淋巴瘤[27例滤泡性淋巴瘤（FL）、13例边缘区淋巴瘤（MZL）、7例小淋巴细胞淋巴瘤（SLL）、6例套细胞淋巴瘤（MCL）、2例淋巴浆细胞淋巴瘤和16例弥漫性大B细胞淋巴瘤（DLBCL）]的BIK基因整个编码区（外显子2至5）进行了单链构象多态性和测序分析。在27例FL中的3例（11%）、13例MZL中的2例（15%）和16例DLBCL中的1例（6%）中观察到错义BIK基因突变。在27例FL中的4例（14.8%）、13例MZL中的7例（53%）和16例DLBCL中的3例（18%）中观察到内含子区域的序列改变。这些数据表明，BIK基因突变是B细胞淋巴瘤的常见特征。