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不常见的BCR:ABL1阳性慢性髓性白血病的表型:一篇综述

Audrey N Jajosky¹, Marshall A Lichtman²

¹Department of Pathology and Laboratory Medicine and the James P. Wilmot Cancer Institute, University of Rochester Medical Center, Rochester, NY.

|May 15, 2025

概括

大多数BCR::ABL1阳性慢性髓性白血病 (CML) 病例具有典型的特征,但罕见的变体如血小板血或m-bcr CML可能被误诊. 早期诊断这些非典型的CML形式对于有效的氨酸激酶抑制剂治疗至关重要.

科学领域:

血液学血液学血液学
在瘤学瘤学.
分子诊断学分子诊断学

背景情况:

BCR::ABL1阳性慢性髓性白血病 (CML) 通常表现为具有特征的血清异常.
超过95%的CML病例涉及p210kDa蛋白 (M-bcr基因型).
准确的基因确认BCR::ABL1瘤基因对于诊断至关重要.

研究的目的:

要突出不太常见的BCR::ABL1-阳性CML的表现.
强调非典型CML变体带来的诊断挑战.
为了强调及时诊断对TKI治疗的重要性.

主要方法:

对典型和非典型CML病例的临床和实验室发现的审查.
对遗传变异的分析,包括m-bcr (p190BCR-ABL1).
在不同CML亚型中对诊断特征的比较.

主要成果:

非典型的表现包括BCR::ABL1阳性血小板血,中性性CML和m-bcr CML,通常具有误导性的血液计数.
这些不常见的形式显示女性占主导地位,除了eosinophilic CML (男性占主导地位).
燃烧的CML (CML前期) 也表明女性占主导地位.

结论:

错误诊断或延迟诊断非典型的CML变体可能会妨碍及时使用氨酸激酶抑制剂 (TKI) 治疗.
识别这些罕见综合征对于优化患者的治疗结果至关重要.
需要进一步研究非典型CML的特征和治疗方法.

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