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[单个中心的109名患有慢性骨髓单细胞白血病的患者的分子特征]

S Q Qu¹, L J Pan¹, T J Qin¹

¹State 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.

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi

|August 7, 2023

概括

2022年世界卫生组织的分类重新分类了慢性骨髓单细胞白血病 (CMML),揭示了骨髓显样性CMML (MD-CMML) 和骨髓增殖性CMML (MP-CMML) 亚型中不同的分子配置文件. 近20%的CMML患者在诊断时呈现低绝对单细胞计数 (AMoC).

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:

慢性骨髓单细胞白血病 (CMML) 是一种异质的克隆性造血干细胞疾病.
准确的分类和分子特征的理解对于CMML诊断和治疗至关重要.
世界卫生组织 (WHO) 的分类系统定期更新,以反映新的科学理解.

研究的目的:

根据世卫组织最新的2022年标准重新评估和分类CMML病例.
研究CMML患者的临床和分子特征.
为了确定区分CMML亚型的独特分子特征.

主要方法:

根据世卫组织2022年标准重新分类113名CMML和840名骨髓质疏松症候群 (MDS) 患者.
对CMML患者的临床数据和基因突变概况的全面分析.
统计分析以确定共同突变模式和与绝对单细胞计数 (AMoC) 等临床参数的关联.

主要成果:

在最初诊断的CMML病例中,有20.4%被重新归类为WHO 2022的急性髓性白血病 (AML).
99%的CMML患者至少表现出一种基因突变,ASXL1,NRAS,RUNX1和TET2是最常见的.
观察到明显的突变模式:SRSF2在老年MP-CMML患者中与ASXL1和TET2共变,而U2AF1突变与年轻的MD-CMML和低AMoC有关.

结论:

世卫组织2022年分类改进了CMML诊断,其中很大一部分被重新归类为AML.
CMML的特点是频繁且复杂的基因突变,平均每个患者有4个突变.
骨髓囊性CMML (MD-CMML) 和骨髓增殖性CMML (MP-CMML) 呈现出显著不同的分子格局,影响临床表现和潜在的治疗策略.

关键词:

慢性骨髓单细胞白血病 (CML) 是一种慢性骨髓单细胞白血病.基因突变是一种基因突变.有针对性的测序.

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