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慢性期慢性髓性白血病诊断时额外细胞遗传学异常的影响

Impact of additional cytogenetic aberrations at diagnosis of chronic phase chronic myeloid leukemia.

作者信息

Cheng Fang, Cui Zheng, Li Qiang, Tong Jundong, Li Weiming

机构信息

Department of Pharmacy, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

Hubei Province Clinical Research Center for Precision Medicine for Critical Illness, Wuhan, China.

出版信息

Ther Adv Med Oncol. 2025 Sep 13;17:17588359251370504. doi: 10.1177/17588359251370504. eCollection 2025.

Abstract

OBJECTIVE

This study aimed to investigate the correlation between additional cytogenetic abnormalities (ACAs) at diagnosis and their clinical consequences in 337 Chinese chronic myeloid leukemia (CML) patients.

DESIGN

Retrospective observational cohort study.

METHODS

Response criteria were applied according to the European LeukemiaNet. Event-free survival (EFS) and progression-free survival (PFS) were analyzed. Independent predictors of PFS were assessed using Cox regression analysis.

RESULTS

At diagnosis, ACAs were identified in 41 patients (12.2%), with 24 exhibiting high-risk ACAs. Patients with high-risk ACAs showed significantly lower molecular response rates than those with low-risk ACAs or non-ACAs. Furthermore, patients with high-risk ACAs demonstrated diminished EFS (45.8% vs 76.5% vs 78.0%, respectively,  = 0.03) and PFS (54.2% vs 94.1% vs 93.9%,  < 0.001) compared with those in the other groups. In the multivariate analysis, both the EUTOS long-term survival (ELTS) score and high-risk ACAs at diagnosis emerged as independent prognostic factors influencing the cumulative major molecular response (MMR) rate and PFS. Moreover, when stratified according to high-risk ACAs and ELTS score, patients with high-risk ACAs alongside an intermediate/high ELTS score exhibited reduced MMR ( < 0.001) and inferior PFS rates ( = 0.0014).

CONCLUSION

These findings underscore the importance of integrating cytogenetics-based risk assessments into CML management.

摘要

目的

本研究旨在调查337例中国慢性髓性白血病(CML)患者诊断时额外细胞遗传学异常(ACA)与其临床后果之间的相关性。

设计

回顾性观察队列研究。

方法

根据欧洲白血病网络应用反应标准。分析无事件生存期(EFS)和无进展生存期(PFS)。使用Cox回归分析评估PFS的独立预测因素。

结果

诊断时,41例患者(12.2%)发现有ACA,其中24例表现为高危ACA。高危ACA患者的分子反应率显著低于低危ACA或无ACA患者。此外,与其他组相比,高危ACA患者的EFS(分别为45.8%对76.5%对78.0%,P = 0.03)和PFS(54.2%对94.1%对93.9%,P < 0.001)降低。在多变量分析中,EUTOS长期生存(ELTS)评分和诊断时的高危ACA均成为影响累积主要分子反应(MMR)率和PFS的独立预后因素。此外,根据高危ACA和ELTS评分分层时,高危ACA且ELTS评分为中/高的患者MMR降低(P < 0.001),PFS率较差(P = 0.0014)。

结论

这些发现强调了将基于细胞遗传学的风险评估纳入CML管理的重要性。

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