文章：

KMT2A部分串联重复急性髓系白血病中CD25异常表达及CD123表达增加常见，且与FLT3内部串联重复相关

Aberrant CD25 and Increased CD123 Expression Are Common in Acute Myeloid Leukemia withKMT2APartial Tandem Duplication and Are Associated withFLT3Internal Tandem Duplication

原文发布日期：16 January 2026

DOI: 10.3390/cancers18020282

类型: Article

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英文摘要：

Background:KMT2Apartial tandem duplication (PTD) occurs in approximately 5–10% of acute myeloid leukemia (AML) cases and is associated with poor prognosis. While its cytogenetic and molecular features are well described, the immunophenotypic characteristics of AML withKMT2A-PTD remain incompletely defined. Methods: We identified 47 cases of AML withKMT2A-PTD by optical genome mapping. All cases underwent flow cytometric immunophenotypic analysis and next-generation sequencing using an 81-gene panel. Results: The cohort included 32 men and 15 women with a median age of 67 years (range, 19–87). Thirty-eight cases were de novo AML, and nine were secondary to myelodysplastic syndrome and/or myeloproliferative neoplasm. Most cases (93%) demonstrated a normal or non-complex karyotype. The most frequent mutations involvedFLT3-ITD(47%),DNMT3A(43%), andRUNX1(23%). Thirty-one cases (66%) were granulocytic, while 16 (34%) showed granulocytic and/or monocytic differentiation. Blasts uniformly expressed HLA-DR and frequently expressed CD117 (91%) and CD34 (79%). Increased expression of CD123 (74%) and CD117 (43%) and decreased expression of HLA-DR (74%) and CD38 (69%) were common. Aberrant CD25 expression was observed in 51% of cases. Increased CD123 and aberrant CD25 expression were significantly associated withFLT3-ITD mutations (bothp< 0.0001) but not with other recurrent mutations. There was no correlation betweenFLT3-ITD mutation and expression levels of CD117, CD38 or HLA-DR (allp> 0.05). Conclusions: AML withKMT2A-PTD shows distinctive immunophenotypic features with increased CD123 and aberrant CD25 expression, both associated withFLT3-ITD. These markers may have diagnostic and therapeutic relevance in this AML subtype.

摘要翻译： 

背景：KMT2A部分串联重复（PTD）见于约5-10%的急性髓系白血病（AML）病例，且与不良预后相关。尽管其细胞遗传学和分子特征已有充分描述，但伴有KMT2A-PTD的AML的免疫表型特征尚未完全明确。方法：我们通过光学基因组映射技术鉴定出47例伴有KMT2A-PTD的AML病例。所有病例均接受流式细胞免疫表型分析及采用81基因组的二代测序。结果：该队列包括32例男性和15例女性，中位年龄67岁（范围19-87岁）。38例为原发急性髓系白血病，9例继发于骨髓增生异常综合征和/或骨髓增殖性肿瘤。大多数病例（93%）表现为正常或非复杂核型。最常见的突变涉及FLT3-ITD（47%）、DNMT3A（43%）和RUNX1（23%）。31例（66%）为粒细胞分化，16例（34%）显示粒系和/或单核系分化。原始细胞均一表达HLA-DR，并频繁表达CD117（91%）和CD34（79%）。CD123表达增高（74%）和CD117表达增高（43%），以及HLA-DR表达降低（74%）和CD38表达降低（69%）较为常见。51%的病例观察到异常CD25表达。CD123增高和异常CD25表达均与FLT3-ITD突变显著相关（均为p<0.0001），但与其他复发突变无关。FLT3-ITD突变与CD117、CD38或HLA-DR的表达水平无相关性（均为p>0.05）。结论：伴有KMT2A-PTD的AML具有独特的免疫表型特征，表现为CD123增高和异常CD25表达，且两者均与FLT3-ITD相关。这些标志物可能在该AML亚型中具有诊断和治疗意义。

原文链接：

Aberrant CD25 and Increased CD123 Expression Are Common in Acute Myeloid Leukemia withKMT2APartial Tandem Duplication and Are Associated withFLT3Internal Tandem Duplication