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目的 分析各种类型B细胞性非霍奇金淋巴瘤 (B NHL)中BCL 6基因 5′ 非编码区突变特点 ,探讨其在淋巴瘤发生中的作用。方法 应用聚合酶链反应 (PCR)、DNA直接测序方法分析 135例B NHL[包括 5 1例弥漫性大B细胞淋巴瘤 (DLBCL)、18例滤泡性淋巴瘤 (FL)、18例B小淋巴细胞性淋巴瘤 (SLL)、15例套细胞性淋巴瘤 (MCL)、7例淋巴浆细胞性淋巴瘤 (LPL)、5例Burkitt淋巴瘤、3例B淋巴母细胞性淋巴瘤 (LBL)、18例黏膜相关淋巴组织 (MALT)淋巴瘤 ],5例T NHL、10例淋巴结反应性增生 (LRH)、5例结节型淋巴细胞为主型霍奇金淋巴瘤 (NLPHL)样本BCL 6基因 5′ 非编码区突变特点。结果 BCL 6基因 5′ 非编码区突变仅见于DLBCL(结内和结外 )、FL和MALTL中 ,突变率分别为2 7 3%、2 0 7%、2 2 2 %和 2 2 2 % ,结内、结外DLBCL中BCL 6突变率差异无显著性 (P >0 0 5 )。SLL、MCL、LPL、Burkitt淋巴瘤、LBL、T NHL以及NLPHL中均未见BCL 6突变 (P <0 0 5 )。 2例LRH的生发中心细胞可见有BCL 6突变。突变频率为 0 14× 10 -2 /bp～ 0 6 8× 10 -2 /bp ;突变类型全部为碱基替换 ,其中颠换略多于转换 (P >0 0 5 )。结论 BCL 6基因 5′ 非编码区突变可作为生发中心相关B细胞性非霍奇金淋巴瘤的分子标志 ,它可能在一定程度上
Objective To analyze the mutation of 5 ’non-coding region of BCL 6 gene in various types of B-cell non-Hodgkin’s lymphoma (B NHL) and to explore its role in the development of lymphoma. Methods 135 cases of B NHL (including 51 DLBCL cases), 18 cases of follicular lymphoma (FL) and 18 cases of small B were analyzed by polymerase chain reaction (PCR) and DNA direct sequencing. 15 cases of MCL, 7 cases of LPL, 5 cases of Burkitt’s lymphoma, 3 cases of B lymphoblastic lymphoma (LBL), 3 cases of lymphocytic lymphoma (SLL), 15 cases of mantle cell lymphoma (MCL), 7 cases of lymphoplasmacytic lymphoma , 18 mucosa-associated lymphoid tissue (MALT) lymphoma], 5 T NHL, 10 lymphoid reactive hyperplasia (LRH) and 5 nodular lymphocytic predominant Hodgkin’s lymphoma (NLPHL) Gene 5 ’non-coding region mutation characteristics. Results The mutations in the 5 ’untranslated region of BCL 6 gene were found only in DLBCL (both intra-and extra-node), FL and MALTL. The mutation rates were 27.3%, 27.0%, 22.2% and 22.2% There was no significant difference in the mutation rate of BCL 6 among the intra-and extra-node DLBCL (P> 0.05). No BCL 6 mutation was found in SLL, MCL, LPL, Burkitt’s lymphoma, LBL, T NHL, and NLPHL (P <0.05). Two cases of LRH germinal center cells showed a BCL 6 mutation. The mutation frequency was 0 14 × 10 -2 / bp ~ 0 6 8 × 10 -2 / bp. All of the mutation types were base substitutions, with slightly more transversion than transversion (P 0 05). CONCLUSION: The 5 ’noncoding mutation of BCL 6 gene may serve as a molecular marker for germinal center-associated B-cell non-Hodgkin’s lymphoma. It may be to some extent