Oliveira Elen, Costa Elaine S, Ciudad Juana, Gaipa Giuseppe, Sedek Łukasz, Barrena Susana, Szczepanski Tomasz, Buracchi Chiara, Silvestri Daniela, Siqueira Patrícia F R, Mello Fabiana V, Torres Rafael C, Oliveira Leonardo M R, Fay-Neves Isabelle V C, Sonneveld Edwin, van der Velden Vincent H J, Mejstrikova Esther, Ribera Josep-Maria, Conter Valentino, Schrappe Martin, van Dongen Jacques J M, Land Marcelo G P, Orfao Alberto
Internal Medicine Postgraduate Program, Faculty of Medicine, Federal University of Rio de Janeiro (UFRJ), Rio de Janeiro 21941-617, Brazil.
Cytometry Service, Instituto de Puericultura e Pediatria Martagão Gesteira (IPPMG), Faculty of Medicine, Federal University of Rio de Janeiro (UFRJ), Rio de Janeiro 21941-912, Brazil.
Cancers (Basel). 2022 Jun 23;14(13):3088. doi: 10.3390/cancers14133088.
For the last two decades, measurable residual disease (MRD) has become one of the most powerful independent prognostic factors in B-cell precursor acute lymphoblastic leukemia (BCP-ALL). However, the effect of therapy on the bone marrow (BM) microenvironment and its potential relationship with the MRD status and disease free survival (DFS) still remain to be investigated. Here we analyzed the distribution of mesenchymal stem cells (MSC) and endothelial cells (EC) in the BM of treated BCP-ALL patients, and its relationship with the BM MRD status and patient outcome. For this purpose, the BM MRD status and EC/MSC regeneration profile were analyzed by multiparameter flow cytometry (MFC) in 16 control BM (10 children; 6 adults) and 1204 BM samples from 347 children and 100 adult BCP-ALL patients studied at diagnosis (129 children; 100 adults) and follow-up (824 childhood samples; 151 adult samples). Patients were grouped into a discovery cohort (116 pediatric BCP-ALL patients; 338 samples) and two validation cohorts (74 pediatric BCP-ALL, 211 samples; and 74 adult BCP-ALL patients; 134 samples). Stromal cells (i.e., EC and MSC) were detected at relatively low frequencies in all control BM (16/16; 100%) and in most BCP-ALL follow-up samples (874/975; 90%), while they were undetected in BCP-ALL BM at diagnosis. In control BM samples, the overall percentage of EC plus MSC was higher in children than adults (p = 0.011), but with a similar EC/MSC ratio in both groups. According to the MRD status similar frequencies of both types of BM stromal cells were detected in BCP-ALL BM studied at different time points during the follow-up. Univariate analysis (including all relevant prognostic factors together with the percentage of stromal cells) performed in the discovery cohort was used to select covariates for a multivariate Cox regression model for predicting patient DFS. Of note, an increased percentage of EC (>32%) within the BCP-ALL BM stromal cell compartment at day +78 of therapy emerged as an independent unfavorable prognostic factor for DFS in childhood BCP-ALL in the discovery cohort—hazard ratio (95% confidence interval) of 2.50 (1−9.66); p = 0.05—together with the BM MRD status (p = 0.031). Further investigation of the predictive value of the combination of these two variables (%EC within stromal cells and MRD status at day +78) allowed classification of BCP-ALL into three risk groups with median DFS of: 3.9, 3.1 and 1.1 years, respectively (p = 0.001). These results were confirmed in two validation cohorts of childhood BCP-ALL (n = 74) (p = 0.001) and adult BCP-ALL (n = 40) (p = 0.004) treated at different centers. In summary, our findings suggest that an imbalanced EC/MSC ratio in BM at day +78 of therapy is associated with a shorter DFS of BCP-ALL patients, independently of their MRD status. Further prospective studies are needed to better understand the pathogenic mechanisms involved.
在过去二十年中,可测量残留病(MRD)已成为B细胞前体急性淋巴细胞白血病(BCP-ALL)中最强大的独立预后因素之一。然而,治疗对骨髓(BM)微环境的影响及其与MRD状态和无病生存期(DFS)的潜在关系仍有待研究。在此,我们分析了接受治疗的BCP-ALL患者骨髓中间充质干细胞(MSC)和内皮细胞(EC)的分布及其与骨髓MRD状态和患者预后的关系。为此,我们通过多参数流式细胞术(MFC)分析了16例对照骨髓(10名儿童;6名成人)以及347名儿童和100名成人BCP-ALL患者在诊断时(129名儿童;100名成人)和随访时(824份儿童样本;151份成人样本)的1204份骨髓样本中的BM MRD状态和EC/MSC再生情况。患者被分为一个发现队列(116例儿童BCP-ALL患者;338份样本)和两个验证队列(74例儿童BCP-ALL,211份样本;以及74例成人BCP-ALL患者;134份样本)。在所有对照骨髓(16/16;100%)和大多数BCP-ALL随访样本(874/975;90%)中,基质细胞(即EC和MSC)的检测频率相对较低,而在诊断时的BCP-ALL骨髓中未检测到。在对照骨髓样本中,儿童的EC加MSC的总体百分比高于成人(p = 0.011),但两组的EC/MSC比率相似。根据MRD状态,在随访期间不同时间点研究的BCP-ALL骨髓中,两种类型的骨髓基质细胞的检测频率相似。在发现队列中进行的单变量分析(包括所有相关预后因素以及基质细胞百分比)用于选择多变量Cox回归模型的协变量,以预测患者的DFS。值得注意的是,在发现队列中,治疗第78天时BCP-ALL骨髓基质细胞区室中EC百分比增加(>32%)成为儿童BCP-ALL患者DFS的独立不良预后因素——风险比(95%置信区间)为2.50(1 - 9.66);p = 0.05——与BM MRD状态(p = 0.031)一起。对这两个变量组合(基质细胞内%EC和第78天的MRD状态)预测价值的进一步研究允许将BCP-ALL分为三个风险组,中位DFS分别为:3.9年、3.1年和1.1年(p = 0.001)。这些结果在两个不同中心治疗的儿童BCP-ALL(n = 74)(p = 0.001)和成人BCP-ALL(n = 40)(p = 0.004)验证队列中得到证实。总之,我们的研究结果表明,治疗第78天时骨髓中EC/MSC比率失衡与BCP-ALL患者较短的DFS相关,与他们的MRD状态无关。需要进一步的前瞻性研究以更好地理解其中涉及的致病机制。