不同遗传学异常的急性淋巴细胞白血病患儿微小残留病变化

A comparison of minimal residual disease in children with acute lymphoblastic leukemia of different genetic abnormalities

摘要:

目的 探讨不同遗传学异常的儿童B细胞急性淋巴细胞白血病（B-ALL）患儿在诱导化疗期间微小残留病（MRD）的变化。方法 以2004年2月至2013年4月收住院的271例初治B-ALL患儿为研究对象，回顾性分析不同遗传学异常患儿在诱导化疗第15天和诱导化疗结束时MRD的变化特点。结果 诱导化疗第15天，具有超二倍体患儿在MRD的3个检测界值上（分别MRD≥0.1%、1%和10%）的检出比例均明显高于非超二倍体患儿（均P<0.05）；TEL-AML1融合基因阳性患儿在上述3个检测界值上的检出比例与TEL-AML1融合基因阴性患儿比较差异均无统计学意义（均P>0.05）。诱导化疗结束时，超二倍体患儿和BCR-ABL1阳性患儿在MRD的3个检测界值上（分别MRD≥0.01%、0.1%和1%）的检出比例分别与非超二倍体和BCR-ABL1阴性患儿比较差异均无统计学意义（均P>0.05）；而TEL-AML1融合基因阴性患儿在上述3个检测界值上的检出比例均高于TEL-AML1融合基因阳性患儿（均P<0.05）；E2A-PBX1阴性患儿仅在MRD≥0.01%和MRD≥0.1%水平上的检出比例高于E2A-PBX1阳性患儿（均P<0.05）。结论 具有不同遗传学异常的B-ALL患儿在诱导化疗中及诱导化疗结束时的MRD水平是不同的，MRD的预后意义可能与不同遗传学异常相关。

Abstract:

Objective To study the changes of minimal residual disease (MRD) in children with B cell acute lymphoblastic leukemia (B-ALL) of different genetic abnormalities. Methods Between February 2004 and April 2013, 271 newly diagnosed B-ALL pediatric patients who had finished the induction chemotherapy were enrolled in the study. The characteristics of changes in MRD in patients with different genetic abnormalities on the 15th day and at the end of the induction therapy were analyzed. Results On the 15th day of the induction chemotherapy, the MRD positive proportion in patients with hyperdiploid was higher on all the three cut-off levels of MRD≥0.1%, 1% and 10% compared to patients without hyperdiploid (P<0.05), but there was no significant difference in the MRD positive proportion on the three levels of MRD between the TEL-AML1-positive and TEL-AML1-negative groups (P>0.05). On the end of induction chemotherapy, there was no significant difference in the MRD positive proportion on the three levels of MRD between the patients with and without hyperdiploid (P>0.05), neither between the BCR-ABL-positive and negative groups. The MRD positive proportion in TEL-AML1-negative patients was significantly higher than in TEL-AML1-positive patients on all three levels of MRD (P<0.05). The MRD positive proportion on two levels of MRD≥0.01% and 0.1% in E2A-PBX1-negative patients was significantly higher than in E2A-PBX1-positive patients (P<0.05). Conclusions Children with B-ALL of different genetic abnormalities have different MRD levels during, and at the end of, induction therapy. The prognostic significance of MRD may be related to the genetic abnormalities.