Peking University People's Hospital, Peking University Institute of Hematology, National Clinical Research Center for Hematologic Disease, Beijing Key Laboratory of Hematopoietic Stem Cell Transplantation, Beijing, China.
Biomol Biomed. 2023 Mar 16;23(2):298-309. doi: 10.17305/bjbms.2022.7851.
More clinical studies are needed to clarify the risk stratification by the integration of all fusion genes in adult B-cell precursor acute lymphoblastic leukemia (BCP-ALL). A total of 320 consecutive adult Ph-negative BCP-ALL patients who had been tested classical fusions (KMT2A rearrangement and TCF3-PBX1) at diagnosis were further retrospectively screened novel fusion genes (Ph-like, ZNF384 and MEF2D fusions) by multiplex real-time quantitative PCR (RQ-PCR). Classical fusions were identified in 12.5% of patients, while 4.4%, 17.2% and 3.8% of patients were identified Ph-like, ZNF384 and MEF2D fusions, respectively. 1-course CR rate, relapse-free survival (RFS) and overall survival (OS) rates tended to show or showed statistically significant differences among fusion-defined subgroups (P = 0.084, 0.001 and 0.0093, respectively). Based on individual outcomes, patients with KMT2A rearrangement, TCF3-PBX1, Ph-like, and MEF2D fusions were classified into fusion-defined high-risk group (n = 66, 20.6%). High-risk group had significantly lower 3-year RFS and 3-year OS rates than standard-risk group (P 0.001 and = 0.0022), and was an independent adverse prognostic factor for RFS in the entire cohort (P 0.001). In conclusion, the spectrum of fusion genes in the current Chinese cohort was distinct from that in reports from western countries. Detection of fusion genes improved risk stratification in adult Ph-negative BCP-ALL patients.
需要更多的临床研究来阐明通过整合所有融合基因在成人 B 细胞前体急性淋巴细胞白血病（BCP-ALL）中的风险分层。对 320 例连续的 Ph 阴性成人 BCP-ALL 患者进行了回顾性分析，这些患者在诊断时已经检测到经典融合（KMT2A 重排和 TCF3-PBX1），进一步通过多重实时定量 PCR（RQ-PCR）筛选新的融合基因（Ph 样、ZNF384 和 MEF2D 融合）。在患者中发现了 12.5%的经典融合，而 4.4%、17.2%和 3.8%的患者分别被确定为 Ph 样、ZNF384 和 MEF2D 融合。1 疗程的完全缓解率（CR 率）、无复发生存率（RFS）和总生存率（OS）在融合定义的亚组中表现出或显示出统计学上的显著差异（P=0.084、0.001 和 0.0093）。基于个体结果，KMT2A 重排、TCF3-PBX1、Ph 样和 MEF2D 融合患者被分为融合定义的高危组（n=66，20.6%）。高危组的 3 年 RFS 和 3 年 OS 率明显低于标准风险组（P<0.001 和 P=0.0022），并且在整个队列中是 RFS 的独立不良预后因素（P<0.001）。总之，当前中国队列中的融合基因谱与西方国家的报告不同。融合基因的检测提高了成人 Ph 阴性 BCP-ALL 患者的风险分层。
