Escherich Carolin S, Li Zhenhua, Barnett Kelly R, Li Yizhen, Walker Megan, Yoshimura Satoshi, Yang Wenjian, Huang Xin, Yu Jiyang, Stock Wendy, Paietta Elisabeth, Konopleva Marina Y, Kornblau Steven M, Jabbour Elias, Litzow Mark R, Inaba Hiroto, Pui Ching-Hon, Loh Mignon L, Evans William E, Savic Daniel, Yang Jun J
Department of Pharmacy and Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, TN.
Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Heinrich Heine University, Duesseldorf, Germany.
Blood. 2025 Jul 24;146(4):471-481. doi: 10.1182/blood.2024028215.
Inotuzumab ozogamicin (InO) is an antibody-calicheamicin conjugate with high efficacy in lymphoid malignancies. It targets the B-cell surface protein CD22, which is expressed in most B-cell acute lymphoblastic leukemia (B-ALL) cases, albeit with variable intensity. However, factors governing CD22 expression and thus leukemia sensitivity to InO remain incompletely understood. Using multiomic characterization of 196 human B-ALL samples, coupled with ex vivo InO sensitivity profiling, we showed that early leukemia differentiation arrest at the pre-pro-B stage is associated with resistance to InO. Screening of 1639 transcription factor genes identified early B-cell factor 1 (EBF1) as a key regulator of CD22 expression (false discovery rate of 7.1 × 10-4). When comparing the assay for transposase-accessible chromatin with sequencing profiling results of the most InO-sensitive and -resistant cases (50% lethal concentration <10th vs >90th percentile, n = 18), the binding motif for EBF1 was strikingly enriched in regions with differential open chromatin status (P = 8 × 10-174). CRISPR interference targeting EBF1 binding sites at the CD22 locus led to an ∼50-fold reduction in cell surface CD22 expression and, consequently, an ∼22-fold increase in InO resistance in ALL cell lines. Interestingly, within BCR::ABL1 ALL, we observed intrasubtype heterogeneity linked to EBF1 transcriptional downregulation (P = 1.1 × 10-15) and/or somatic alteration (P = .004), which led to reduced CD22 expression (P = 8.3 × 10-11) and ex vivo and in vivo resistance to InO. Collectively, these findings point to the direct impact of EBF1 on CD22 expression during B-cell development, which, in turn, contributes to interpatient variability in InO response, even within the same subtype of B-ALL.
奥英妥珠单抗(InO)是一种抗体-卡奇霉素偶联物,对淋巴系统恶性肿瘤具有高效性。它靶向B细胞表面蛋白CD22,该蛋白在大多数B细胞急性淋巴细胞白血病(B-ALL)病例中均有表达,尽管表达强度各异。然而,调控CD22表达以及白血病对InO敏感性的因素仍未完全明确。通过对196例人类B-ALL样本进行多组学特征分析,并结合体外InO敏感性分析,我们发现白血病在前B祖细胞阶段的早期分化停滞与对InO的耐药性相关。对1639个转录因子基因进行筛选,确定早期B细胞因子1(EBF1)是CD22表达的关键调节因子(错误发现率为7.1×10-4)。在比较转座酶可及染色质分析与对InO最敏感和最耐药病例(半数致死浓度<第10百分位数与>第90百分位数,n = 18)的测序分析结果时,EBF1的结合基序在具有不同开放染色质状态的区域中显著富集(P = 8×10-174)。靶向CD22基因座上EBF1结合位点的CRISPR干扰导致细胞表面CD22表达降低约50倍,进而使ALL细胞系对InO的耐药性增加约22倍。有趣的是,在BCR::ABL1 ALL中,我们观察到与EBF1转录下调(P = 1.1×10-15)和/或体细胞改变(P = 0.004)相关的亚型内异质性,这导致CD22表达降低(P = 8.3×10-11)以及对InO的体外和体内耐药性。总体而言,这些发现表明EBF1在B细胞发育过程中对CD22表达有直接影响,这反过来又导致了即使在同一亚型的B-ALL患者中,InO反应也存在个体差异。