Association between AID expression and somatic hypermutation of Immunoglobulin m human B cell neoplasms

已发表研究论文3篇。在15株BL（伯基特淋巴瘤）细胞株和5例新鲜BL样本中，研究了AID的表达和体细胞超突变（SHM）。只有Tree92和Black93细胞系未检测到AID的表达，这2个细胞系未检测到SHM的表达。在其他样品中，包括5个新鲜样品，都发现了AID和SHM。在Tree92中，基于表达TdT和RAG1/2的表型，我们已经预料到SHM的缺失，而Black93具有常见的BL表型。这项工作提出了一个问题，即艾滋病阴性的BL是否构成了BL的一个重要子集。此外，t(8;14)（q24;q32）可能发生在AID表达之前的阶段。（Leukemia & Lymphoma 2004;45:155-160）[2]我们对15例滤泡性淋巴瘤（FL）和4株细胞株的SHM和AID表达情况进行了研究。10例新鲜病例和3株细胞株表达AID。在新鲜样品中，持续突变的程度与AID表达的程度相关。在细胞系中，没有发现正在进行的突变，表明一些克隆选择已经结束，抹去了正在进行的突变的痕迹。结果表明，SHM在与FL相对应的阶段开始、进行和终止（Leukemia 2004;18:826-831） b[3] ALL伴t(14;18)（q32;q21）的病例报道很少，但基因型研究不足。研究了3个细胞系和2个新鲜样品，包括一对新鲜和细胞系。尽管偶尔表达TdT和Rag1/2，但VH基因表现为SHM。新鲜的样本甚至显示出持续的突变。这些结果从疾病类型（ALL与淋巴瘤）与衍生阶段的关系，早期表型与成熟基因组特征的重叠，以及t(14;18)（q32;q21）的机制与引起SHM的机制之间的可能关系等角度提供了深刻的见解。

Three research articles have been published. [1] In 15 BL (Burkitt lymphoma) cell lines and 5 fresh BL samples, AID expression and SHM (somatic hypermutation) were investigated. AID expression was not detected in only Tree92 and Black93, and no SHM was found in these 2 cell lines. In the other samples, including the 5 fresh samples, AID and SHM was always found. In Tree92, the absence of SHM had been expected based on the phenotype expressing TdT and RAG1/2, while Black93 has a usual phenotype of BL. This work raised a question if AID-negative BL constitutes a significant subset of BL. Furthermore, t(8;14)(q24;q32) can occur at the stage prior to AID expression. (Leukemia & Lymphoma 2004;45:155-160) [2] In 15 cases of FL (follicular lymphoma) and 4 cell lines, the status of SHM and AID expression were investigated. Ten cases of fresh cases and 3 cell lines expressed AID. In the fresh samples, the degree of on-going mutation correlated with the degree of AID expression. In the cell lines, no on-going mutation was found, indicating that some clonal selection had been over, erasing the trace of on-going mutation. The results indicated that SHM starts, proceed and is terminated in the stage counterparting FL. (Leukemia 2004;18:826-831) [3] ALL cases with t(14;18)(q32;q21) have been reported rarely, but the genotypic study has been insufficient. Three cell lines and two frsh samples, including a pair of the fresh and cell line, were investigated. Despite the occasional expression of TdT and Rag1/2, the VH gene showed SHM. The fresh samples showed even on-going mutation. These results were insightful from such viewpoints as the relationship between disease type (ALL versus lymphoma) and derivation stage, the overlapping of the early stage phenotype and the mature genomic characteristics, and the probable relationship between the mechanism of t(14;18)(q32;q21) and the machinery causing SHM.