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[伴有多系受累的Ph(+)急性淋巴细胞白血病诊断与治疗的最新进展]

[Recent advances in the diagnosis and management of Ph(+) acute lymphoblastic leukemia with multilineage involvement].

作者信息

Lu D L, Zhang Q M, Li L, Gu R X

机构信息

State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin 300020, China Tianjin Institutes of Health Science, Tianjin 301600, China.

出版信息

Zhonghua Xue Ye Xue Za Zhi. 2025 Jul 14;46(7):668-672. doi: 10.3760/cma.j.cn121090-20250228-00099.

Abstract

The evolving stratified treatment approach based on molecular genetic alterations and minimal residual disease (MRD) monitoring has established a strong foundation for clinically managing Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph(+) ALL). However, with the growing use of immune-targeted therapies and the increased sensitivity of detection technologies, discrepancies in MRD assessment have emerged in some patients with Ph(+) ALL, particularly where BCR:: ABL1-based MRD levels remain consistently elevated compared to those detected by alternative methods. Research suggests that this persistent BCR:: ABL1 positivity may not solely reflect residual lymphoblasts but may also indicate the involvement of multilineage hematopoietic cells. This distinct biological feature has been termed Ph(+) ALL with multilineage involvement. Currently, the absence of standardized diagnostic criteria and prognostic frameworks for this subtype poses significant challenges in clinical decision-making. Therefore, this article offers a comprehensive review of its molecular and pathological characteristics, potential prognostic biomarkers, patterns of disease evolution, and clinical implications, with the goal of informing more accurate diagnostic and therapeutic strategies.

摘要

基于分子遗传学改变和微小残留病(MRD)监测的不断发展的分层治疗方法,为临床管理费城染色体阳性急性淋巴细胞白血病(Ph(+) ALL)奠定了坚实基础。然而,随着免疫靶向治疗的广泛应用和检测技术灵敏度的提高,一些Ph(+) ALL患者在MRD评估中出现了差异,特别是与其他方法检测到的水平相比,基于BCR::ABL1的MRD水平持续升高。研究表明,这种持续的BCR::ABL1阳性可能不仅仅反映残留的淋巴母细胞,还可能表明多谱系造血细胞的参与。这种独特的生物学特征被称为多谱系受累的Ph(+) ALL。目前,该亚型缺乏标准化的诊断标准和预后框架,给临床决策带来了重大挑战。因此,本文对其分子和病理特征、潜在的预后生物标志物、疾病演变模式及临床意义进行了全面综述,旨在为更准确的诊断和治疗策略提供依据。

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