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流式细胞术预测评分系统在常见融合基因 ETV6/RUNX1、BCR/ABL1、TCF3/PBX1 和 KMT2A 基因重排中的应用,建议用于 B 急性淋巴细胞白血病初始细胞遗传学方法。

Flow cytometric predictive scoring systems for common fusions ETV6/RUNX1, BCR/ABL1, TCF3/PBX1 and rearrangements of the KMT2A gene, proposed for the initial cytogenetic approach in cases of B-acute lymphoblastic leukemia.

机构信息

Department of Laboratory Hematology, Athens Regional General Hospital "G. Gennimatas", Athens, Greece.

Department of Clinical Hematology, Athens Regional General Hospital "G. Gennimatas", Athens, Greece.

出版信息

Int J Lab Hematol. 2019 Jun;41(3):364-372. doi: 10.1111/ijlh.12983. Epub 2019 Feb 7.

Abstract

INTRODUCTION

In B-acute lymphoblastic leukemia (B-ALL), the identification of cytogenetic prognostic factors is important for stratifying patients into risk groups and tailoring treatment accordingly. The purpose of this study was to propose flow cytometric (FCM) scoring systems (SSs) for predicting t(12;21)(p13;q22), t(9;22)(q34;q11), t(11q23), and t(1;19)(q23;p13.3) translocations.

METHODS

We analyzed retrospectively the FCM immunophenotype of 377 patients with B-ALL with regard to the major cytogenetic findings revealed by interphase fluorescence in situ hybridization (i-FISH). Comparing descriptive data on the expression of each antigen and performing receiver operating characteristic (ROC) analysis, we identified the most reliable predictive markers for each translocation and sought to establish a specific SS for each translocation, based on specific antibody panels.

RESULTS

CD27, CD9, CD66c, CD10, CD25, and CD34 were employed for the prediction of t(12;21), CD25, CD38, CD34, and CD66c for t(9;22), NG2, CD10, CD15, CD34, and CD20 for t(11q23), and CD34, cμ, CD123, and CD66c for t(1;19). The sensitivity and specificity, respectively, of each predictive score were 89.29% and 96.15% for t(12;21), 75.00% and 88.19% for t(9;22), 84.21% and 99.04% for t(11q23), and 85.71% and 92.71% for t(1;19).

CONCLUSION

Four highly specific and significantly sensitive FCM-obtained SSs are proposed for the prediction of the four major translocations observed in patients with B-ALL. Prospective evaluation of the proposed SSs could lead to a better targeted cytogenetic investigation and therefore to more cost-effective laboratory practice.

摘要

简介

在 B 急性淋巴细胞白血病(B-ALL)中,鉴定细胞遗传学预后因素对于将患者分层为风险组并相应地调整治疗非常重要。本研究的目的是提出用于预测 t(12;21)(p13;q22)、t(9;22)(q34;q11)、t(11q23)和 t(1;19)(q23;p13.3)易位的流式细胞术(FCM)评分系统(SS)。

方法

我们回顾性分析了 377 例 B-ALL 患者的 FCM 免疫表型,这些患者的主要细胞遗传学发现是通过间期荧光原位杂交(i-FISH)揭示的。比较每个抗原表达的描述性数据并进行接收者操作特征(ROC)分析,我们确定了每个易位的最可靠预测标志物,并试图根据特定的抗体组合为每个易位建立特定的 SS。

结果

CD27、CD9、CD66c、CD10、CD25 和 CD34 用于预测 t(12;21),CD25、CD38、CD34 和 CD66c 用于预测 t(9;22),NG2、CD10、CD15、CD34 和 CD20 用于预测 t(11q23),CD34、cμ、CD123 和 CD66c 用于预测 t(1;19)。每个预测评分的灵敏度和特异性分别为 t(12;21)的 89.29%和 96.15%,t(9;22)的 75.00%和 88.19%,t(11q23)的 84.21%和 99.04%,t(1;19)的 85.71%和 92.71%。

结论

提出了四个高度特异性和显著敏感的 FCM 获得的 SS,用于预测 B-ALL 患者中观察到的四种主要易位。对拟议 SS 的前瞻性评估可能导致更有针对性的细胞遗传学研究,从而实现更具成本效益的实验室实践。

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