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一个混合表型急性白血病病例报告与非典型的BCR::ABL1 e13a3融合基因

Yan Zhou¹, Mei Liu¹, Yunlu Zhao^1,2

¹Department of Clinical Laboratory, The Second Hospital of Hebei Medical University, Shijiazhuang, P.R. China.

|December 10, 2025

概括

本案例研究详细介绍了一种罕见的费城染色体阳性 (Ph +) 混合表型急性白血病 (MPAL) 与非典型的BCR::ABL1融合. 这些发现为诊断和管理这种具有挑战性的白血病亚型提供了新的见解.

科学领域:

血液学血液学血液学
在瘤学瘤学.
分子生物学分子生物学

背景情况:

混合表型急性白血病 (MPAL) 表现出髓状和淋巴状分化特征.
费城染色体阳性 (Ph+) MPAL是一种罕见的亚型,预后不佳,占成人急性白血病病例的不到1%.

研究的目的:

报告一个MPAL与Ph+非典型e13a3BCR::ABL1融合的独特病例.
为诊断和管理Ph + MPAL提供新的视角.

主要方法:

一名64岁的男性出现了暗示白血病的症状,包括发烧和出血.
患有非典型e13a3 BCR::ABL1转录的MPAL诊断通过形态学,流细胞计,细胞遗传学和分子分析得到证实.
治疗包括VCD,Venetoclax和Dasatinib的组合,以及支持性护理.

主要成果:

患者在两线治疗后实现了缓解.
三个月后发生了复发,突出显示了治疗的挑战.

结论:

对于Ph+ MPAL,特别是非典型的BCR::ABL1融合,没有确立的治疗共识.
这个案例为诊断和治疗罕见的Ph + MPAL亚型提供了宝贵的见解.

关键词:

费城染色体是什么意思费城染色体是什么意思非典型的转录混合现象型急性白血病混合现象型急性白血病

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