[异基因造血干细胞移植后监测急性淋巴细胞白血病患儿ETV6-RUNX1融合基因表达的临床意义]

[Clinical significance of monitoring ETV6-RUNX1 fusion gene expression in children with acute lymphoblastic leukemia after allogeneic hematopoietic stem cell transplantation].

作者信息

Hong Y, Qin Y Z, Xu Y Y, Zhou S H, Wang Y, Xu L P, Zhang X H, Huang X J, Zhao X S

机构信息

Peking University People's Hospital, Peking University Institute of Hematology, Beijing 100044, China.

出版信息

Zhonghua Xue Ye Xue Za Zhi. 2017 Aug 14;38(8):680-684. doi: 10.3760/cma.j.issn.0253-2727.2017.08.006.

Abstract

To investigate the clinical significance of monitoring ETV6-RUNX1 fusion gene in children with acute lymphoblastic leukemia (ALL) after allogeneic stem cell transplantation (allo-HSCT) . Clinical data of 13 children received allo-HSCT in Peking University Institute of Hematology from May 2009 to March 2016 were retrospectively collected. The ETV6-RUNX1 gene was examined by real-time quantitative polymerase chain reaction (RQ-PCR) . The correlation between its expression level and the disease status was analyzed. Of 13 enrolled ALL cases, the ETV6-RUNX1 expression of 7 patients converted to positive after transplant at a median time of 137 days (range, 28-270 days) . The expression level of the first positive sample was 0.034% (range, 0.004%-0.061%) . The duration from ETV6-RUNX1 positive to hematological relapse was 196 days (range, 28-666 days) . Four patients experienced relapse at a median time of 294 days (range, 104-803 days) after allo-HSCT. The ETV6-RUNX1 expression converted to positive prior to MRD. Patients with positive ETV6-RUNX1 gene expression pre-transplantation would be more likely to relapse. Monitoring ETV6-RUNX1 by RQ-PCR could be used to evaluate MRD status after allo-HSCT. Patients with positive ETV6-RUNX1 after transplant had a poor prognosis.

摘要

探讨监测急性淋巴细胞白血病(ALL)患儿异基因造血干细胞移植(allo-HSCT)后ETV6-RUNX1融合基因的临床意义。回顾性收集2009年5月至2016年3月在北京大学血液病研究所接受allo-HSCT的13例患儿的临床资料。采用实时定量聚合酶链反应(RQ-PCR)检测ETV6-RUNX1基因。分析其表达水平与疾病状态的相关性。13例ALL患儿中,7例患者移植后ETV6-RUNX1表达转为阳性,中位时间为137天(范围28-270天)。首个阳性样本的表达水平为0.034%(范围0.004%-0.061%)。从ETV6-RUNX1阳性到血液学复发的持续时间为196天(范围28-666天)。4例患者在allo-HSCT后中位时间294天(范围104-803天)出现复发。ETV6-RUNX1表达在微小残留病(MRD)之前转为阳性。移植前ETV6-RUNX1基因表达阳性的患者更易复发。通过RQ-PCR监测ETV6-RUNX1可用于评估allo-HSCT后的MRD状态。移植后ETV6-RUNX1阳性的患者预后较差。

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