Min Da-Liu, Zhou Xiao-Yan, Yang Wen-Tao, Sun Meng-Hong, Lu Hong-Fen, Zhang Tai-Ming, Zheng Ai-Hua, Cao Pei-Zhen, Shi Da-Ren
Laboratory of Molecular Pathology, Cancer Hospital of Fudan University, Shanghai 210032, China.
Zhonghua Bing Li Xue Za Zhi. 2004 Jun;33(3):238-41.
To investigate BCL-6 gene mutations in B-cell non-Hodgkin lymphomas (B-NHL) and their implications in lymphoma pathogenesis.
Polymerase chain reaction (PCR) and direct DNA sequencing methods were used to identify mutations in the 5'-noncoding region of BCL-6 gene in 135 cases of B-NHL, 5 cases of T-NHL, 5 cases of nodular lymphocyte predominance Hodgkin's lymphoma (NLPHL) and 10 cases of reactive hyperplasia of lymph node.
Mutations were identified in 6 cases of nodal DLBCL (27.3%), 4 cases of FL (22.2%), 4 cases of MALT lymphoma (22.2%), 4 cases of extranodal DLBCL (20.7%) and 2 cases of LRH (20%). No mutations were detected in T-NHL and NLPHL (P < 0.05). There were no significant differences in incidences of BCL-6 gene mutations between nodal and extranodal DLBCL (P > 0.05). All mutations were base substitutions and the frequency of single-base change was 0.14 x 10(-2)/bp approximately 0.68 x 10(-2)/bp.
Mutations of the 5'non-coding region of BCL-6 gene may be involved in the pathogenesis and progression of B-NHL. Molecular demonstration of such mutations may provide a marker of lymphomas derived from the germinal center-related B cells.
研究B细胞非霍奇金淋巴瘤(B-NHL)中BCL-6基因突变情况及其在淋巴瘤发病机制中的意义。
采用聚合酶链反应(PCR)及直接DNA测序法,检测135例B-NHL、5例T-NHL、5例结节性淋巴细胞为主型霍奇金淋巴瘤(NLPHL)及10例淋巴结反应性增生患者BCL-6基因5′非编码区的突变情况。
在6例结内弥漫大B细胞淋巴瘤(DLBCL,27.3%)、4例滤泡性淋巴瘤(FL,22.2%)、4例黏膜相关淋巴组织淋巴瘤(MALT淋巴瘤,22.2%)、4例结外DLBCL(20.7%)及2例淋巴结反应性增生(LRH,20%)中检测到突变。T-NHL和NLPHL中未检测到突变(P<0.05)。结内和结外DLBCL的BCL-6基因突变发生率无显著差异(P>0.05)。所有突变均为碱基替换,单碱基改变频率约为0.14×10⁻²/bp至0.68×10⁻²/bp。
BCL-6基因5′非编码区突变可能参与B-NHL的发病机制及进展。此类突变的分子学证据可为源自生发中心相关B细胞的淋巴瘤提供标志物。