急性白血病受体基因重排的研究

Study on rearrangements of genes in acute leukemia

目的 :探讨急性白血病微小残留病 (MRD)与化疗效应差异及受体基因重排 ,在急性非淋巴细胞白血病 (ANL L)中序列交叉现象及意义。方法 :应用聚合酶链反应技术对免疫球蛋白 (Ig H)及 T细胞受体 (TCR )基因重排进行定量测定。结果 :45例急性淋巴细胞白血病 (AL L)中阳性率 84.4% (38/ 45 ) ,完全缓解 (CR)后 180 d检测 ,阳性率仍 5 5 .6 % (2 5 / 45 ) ,2 0例 ANL L 中 5例检测到 Ig H受体基因重排 ,观察 6 0 d有复发迹象 ,但白细胞数持续 <1× 10 5 ,无复发。结论 :Ig H、TCR 基因重排是检测残留白血病的敏感指标 ,但在 ANL L中有失真现象。化疗效应的定量评价 ,有助于制定个体化的治疗方案。

Objective:To explore minimal residual disease(MRD) of acute leukemia and evaluation of chem otherapy efficiency and the mechanism of infidelity of gene rearrangements in acute nonlymphocytic leukemia.Method:Immunoglobulin and T cell receptor gene rearrangement were studied in 45 patients with acute leukemia and 20 acute nonlymphocytic leukemia in various stages by polymerase chain reactcon.Result:This method was sensitive to malignancy in a background of 10 5 normal cells.In 45 Acute lymphocytic leukemia patients the positive rate is 84.4%,which remained 55.6% 180 days after complete remission .Immunoglobulin heavy chain gene rearrangements were detected in 5 of 20 patients,one of whom in complete remission was found to have tendency of relapse 180 days later.In some patients in remission,the amount of leukemia cells persistently under 1×10 5 without clinical relapse.Conclusion:The IgH and TcR gene rearrangement are highly specific and sensitive indicators of MRD.Lineage infidelity of immunoglobulin gene rearrangements does exist in acute nonlymphocytic leukemia.Quantitative evaluation of the chemotherapy effect is helpful for individualized treatment.