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发生CSF3R突变的髓状瘤:超越慢性中性恋白血病

Ahmed Mohamed¹, Juehua Gao¹, Yi-Hua Chen¹

¹Department of Pathology, Northwestern University Feinberg School of Medicine, 251 E Huron Street, Chicago, IL, 60611, USA.

Human pathology

|June 15, 2024

概括

CSF3R突变比以前认为的更多的髓状瘤中发现,包括非典型慢性髓状白血病 (aCML) 和急性髓状白血病 (AML). 这些发现表明,CNL可能更好地被归类为骨髓质疏松性/骨髓增殖性瘤.

科学领域:

血液学血液学血液学
在瘤学瘤学.
遗传学是一个遗传学.

背景情况:

激活CSF3R的突变是慢性中性恋白血病 (CNL) 的标志.
不同骨髓瘤瘤中CSF3R突变的发生情况并未得到很好的描述.
之前的研究表明,CSF3R突变在中枢神经瘤以外的髓状瘤中并不常见.

研究的目的:

为了评估CSF3R突变的频谱在各种髓状瘤.
为了将CSF3R突变与临床病理特征相关联.
调查CSF3R突变骨髓瘤瘤的分子景观和临床结果.

主要方法:

对已识别的CSF3R突变的骨髓瘤瘤病例的回顾性分析.
对CSF3R的突变查,包括T618I和Q776*变种.
对表观遗传修饰剂,结合酶体和瘤抑制剂中同时发生的突变的分析.
临床数据审查,包括诊断,治疗和结果.

主要成果:

在慢性中性恋白血病 (CNL),非典型慢性髓性白血病 (aCML),急性髓性白血病 (AML),慢性髓性单细胞白血病和骨髓增殖性瘤中发现了CSF3R突变.
在50%的病例中存在T618I突变,在25%的病例中存在新的Q776*突变.
同时发生的突变经常涉及表观遗传修饰剂和结合细胞;IDH/RUNX1和瘤抑制突变在AML中很常见,但在CNL/aCML中不存在.
所有CNL和aCML患者在诊断后两年内死亡.

结论:

CSF3R突变并不仅限于CNL,并且存在于更广泛的髓状瘤中.
CNL和aCML具有类似的临床病理学和分子特征.
这些发现支持将CNL重新分类为骨髓质疏松性/骨髓扩散性瘤,而不是骨髓扩散性瘤.

关键词:

非典型的慢性髓性白血病 (aCML)慢性中性性白血病 (CNL) 是一种殖民地刺激因子3受体 (CSF3R)骨髓状细胞瘤的新生体

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