摘要目的 探讨套细胞淋巴瘤(MCL)免疫球蛋白重链可变区(IgVH)基因突变状态与各临床病理因素间的关系,进一步了解MCL的生物学行为.方法 对60例确诊为MCL病例,使用BIOMED-2系统的FR1-JH及FR2-JH两套引物扩增IgVH基因序列,并T载体克隆测序,利用Pubmed在线数据库Ig-BLAST进行核苷酸序列比对,分析其与各临床病理因素间的关系.结果 以98％为标准,60例MCL中未突变组36例(60.0％)克隆出40条功能性Ig基因序列,突变组24例(40.0％)克隆出28条功能性Ig基因序列;MCL对VH3-21(27,9％)及VH4-34(19.1％)有使用偏倚性,前者多见于未突变病例,后者多见于突变病例;19例(9例未突变、10例突变)有克隆内差异;IgVH基因的突变状态、特定VH基因片段与预后无关(P＞0.05).结论 MCL是一异质性实体;对VH3-21和VH4-34有使用偏倚性,提示在MCL发生发展中某种或某些特定抗原起一定作用;IgVH基因突变状态、特定VH基因片段与预后无关.

abstractsObjective To study the relationship between immunoglobulin variable heavy chain (IgVH) gene mutation status and clinical features,pathologic findings and biologic behavior of mantle cell lymphoma (MCL).Methods IgVH gene was amplified in 60 cases of MCL with FR1-JH and FR2-JH primers in BIOMED-2.The sequence was determined by cloning.The IgVH somatic mutational status was analyzed using NCBI's Ig-Blast tool.The relationship between IgVH gene mutation status and clinicopathologic features was also analyzed.Results Forty percent (24 cases,28 functional Ig genes) of the MCL cases displayed somatically mutated VH genes (defined as ＞ 2％ mutated),whereas 60.0％ (36 cases,40 functional Ig genes) showed unmutated VH genes.The most widely used genes were VH3-21 (27.9％) and VH4-34 (19.1％).The former were mainly used by unmutated cases,while the later mainly by mutated cases.Intraclonal heterogeneity was noted in 19 cases.There was no correlation of VH mutation status and specific VH gene with survival (P ＞ 0.05).Conclusions MCL comprises at least two subsets that do not correlate with morphology:one with unmutated VH genes and one with mutated VH genes.The biased use of VH3-21 and VH4-34 is noted.The nonrandom usage of IgVH segments suggests specific antigens may play a role in the pathogenesis and progression of MCL subsets.There is no correlation of IgVH mutation status and specific VH gene with survival.