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

发表了三篇研究文章。[1]在15个伯基特淋巴瘤（Burkitt lymphoma，BL）细胞系和5个新鲜BL标本中，检测AID表达和SHM（somatic hypermutation）。在Tree 92和Black 93中未检测到AID表达，在这两个细胞系中未检测到SHM。在其他样品中，包括5份新鲜样品，均发现AID和SHM，Tree 92中，基于表达TdT和RAG 1/2的表型，预期不存在SHM，而Black 93具有BL的常见表型。这项工作提出了一个问题，如果艾滋病阴性BL构成BL的重要子集。此外，t（8;14）（q24;q32）可以发生在AID表达之前的阶段。（Leukemia & Lymphoma 2004;45：155-160）[2]在15例FL（滤泡性淋巴瘤）和4个细胞系中，研究了SHM和AID表达的状态。10例新鲜病例和3株细胞系表达AID。在新鲜样本中，正在进行的突变程度与AID表达程度相关。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，消除了正在进行的突变的痕迹。结果表明，SHM开始，进行和终止于对应FL的阶段。（Leukemia 2004;18：826-831）[3] t（14;18）（q32;q21）ALL病例很少报道，但基因型研究不足。研究了三个细胞系和两个新鲜样品，包括一对新鲜和细胞系。尽管偶尔表达TdT和Rag 1/2，VH基因显示SHM。新鲜样本甚至显示出正在发生的突变。这些结果从疾病类型（ALL与淋巴瘤）与起源阶段之间的关系、早期表型与成熟基因组特征的重叠以及t（14;18）（q32;q21）机制与引起SHM的机制之间的可能关系等观点具有深刻的见解。

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.