47例儿童急性淋巴细胞白血病IgH和TCR基因重排  

The IgH and TCR gene rearrangements in 47 childhood patients with acute lymphoblastic leukemia

作　　者：步嵘[1] 王耀平[1] 林梓[1] 

机构地区：[1]上海第二医科大学附属新华医院

出　　处：《中华儿科杂志》1998年第6期346-348,共3页Chinese Journal of Pediatrics

摘　　要：目的检测４７例儿童急性淋巴细胞白血病（ＡＬＬ）ＩｇＨ和ＴＣＲ基因重排，以便选择恰当的组合用于微小残留病（ＭＲＤ）的检测。方法以Ｃｈｅｌｅｘ１００为介质，从初诊的ＡＬＬ患儿骨髓涂片中提取ＤＮＡ，借助聚合酶链反应（ＰＣＲ）技术检测ＩｇＨ、ＴＣＲβ、ＴＣＲδ和ＴＣＲγ基因重排。结果在ＢＡＬＬ（４２例）中，ＩｇＨ、ＴＣＲβ、ＴＣＲδ和ＴＣＲγ基因重排的检出结果分别为３２／４２（７４％）例、１５／４２（３６％）例、１９／４２（４５％）例和１５／４２（３６％）例。４２例中，３３例至少出现一种重排，出现两种或两种以上重排的有２２例。在ＴＡＬＬ（５例）中，ＩｇＨ、ＴＣＲβ、ＴＣＲδ和ＴＣＲγ基因重排的检出结果分别为３／５例、４／５例、２／５例和１／５例。５例均至少出现一种重排，出现两种或两种以上重排的有３例。５例ＴＡＬＬ中，用ＴＣＲγ、ＴＣＲδ和ＴＣＲβＤ２Ｊ２引物组合至少检出一种单一条带重排的有３例，而再增加ＩｇＨ引物时为４例。４２例ＢＡＬＬ中，上述不同引物组合至少有一种单一条带重排的检出例数分别为２１例（５０％）和３０例（７１％）。结论用ＴＣＲβＤ２Ｊ２、ＴＣＲδ和ＴＣＲγ基因重排为ＭＲＤ检测的标记，必要时可辅?Objective To study the IgH and TCR gene rearrangements at diagnosis in 47 childhood patients with acute lymphoblastic leukemia (ALL) in order to choose optimal primers to detect MRD. Methods After extraction of DNA from stored bone marrow smears at diagnosis with chelex 100, IgH, TCRβ, TCRδ and TCRγ gene rearrangements were detected by using polymerase chain reaction (PCR) technique. Results In 42 B ALL, clonal gene rearrangements of IgH, TCRβ, TCRδ and TCRγ were detected in 32/42(74%), 15/42(36%), 19/42(45%) and 15/42(36%), respectively. Thirty three of the 42 cases had at least one of the clonal gene rearrangements. Two or more of the clonal gene rearrangements appeared in 22/42 cases. In 5 T ALL, clonal gene rearrangements of IgH, TCRβ, TCRδ and TCRγ were detected in 3/5, 4/5, 2/5 and 1/5, respectively. All of the 5 cases had at least one of the clonal rearrangements. Two or more of rearrangements appeared in 3/5 cases. The frequencies of one band amplified by using TCRβ D 2J 2, TCRδ or TCRγ primers were 3/5 in T ALL and 21/42(50%) in B ALL. The frequencies of one band amplified by using TCRβ D 2J 2, TCRδ or TCRγ or IgH primers were 4/5 in T ALL and 30/42(71%) in B ALL. Conclusion It is optimal to detect MRD by using PCR mediated amplification of TCRβ D 2J 2, TCRδ and TCRγ gene rearrangements, then IgH gene rearrangement if it is necessary.

关 键 词：白血病 淋巴细胞 急性 基因重排 PCR 儿童 

分 类 号：R733.710.2[医药卫生—肿瘤]