Li Pan, Liu Li, Zhou Fuling
Department of Hematology, Zhongnan Hospital of Wuhan University, Wuhan, 430071, China.
BMC Cancer. 2024 Dec 26;24(1):1576. doi: 10.1186/s12885-024-13348-6.
The complexity of acute myeloid leukemia (AML) is increasingly recognized through the identification of distinct subgroups, including those with an APL-like immunophenotype characterized by the absence of CD34 and HLA-DR expression, which is widely recognized as a representative immunophenotype in acute promyelocytic leukemia (APL). This study sought to understand the clinical, molecular, and prognostic differences between AML patients with and without this phenotype.
This study retrospectively analysed 191 de novo non-M3 AML patients and identified 32 patients with the CD34HLA-DR phenotype resembling APL-like immunophenotype, considered as the experimental group. Clinical data, including complete blood count, leukemic blasts, coagulation analysis DIC score, and OS, were collected, and immunophenotypic and molecular data were compared between this group and a control group of patients without this immunophenotype.
Patients with the CD34HLA-DR immunophenotype in the AML cohort had a significantly greater risk of developing disseminated intravascular coagulation (DIC) than did patients in the control group. Additionally, a lower rate of expression of immunophenotypic clusters of differentiation (CD markers) associated with poor prognosis was observed in the CD34HLA-DR group. At the molecular level, an increased frequency of nucleophosmin 1 (NPM1) mutations and increased expression of the Wilms' tumor 1 (WT1) gene were noted in this subgroup. However, contrary to patients with an expected favourable prognosis, patients in the favourable risk group with the CD34HLA-DR immunophenotype had significantly shorter overall survival than did patients in the control group.
The findings highlight the patients exhibiting the CD34HLA-DR immunophenotype as a unique AML subgroup with specific clinical and molecular traits, notably a predisposition to DIC, which affecting prognosis. This finding has implications for risk stratification and potential targeted therapies for AML management.
通过识别不同的亚组，急性髓系白血病（AML）的复杂性越来越受到认可，其中包括那些具有类似急性早幼粒细胞白血病（APL）免疫表型的亚组，其特征是缺乏CD34和HLA-DR表达，这被广泛认为是急性早幼粒细胞白血病（APL）的代表性免疫表型。本研究旨在了解具有和不具有这种表型的AML患者之间的临床、分子和预后差异。
本研究回顾性分析了191例初发非M3 AML患者，确定了32例具有类似APL样免疫表型的CD34HLA-DR表型患者，作为实验组。收集临床数据，包括全血细胞计数、白血病原始细胞、凝血分析DIC评分和总生存期，并比较该组与无此免疫表型的对照组患者的免疫表型和分子数据。
AML队列中具有CD34HLA-DR免疫表型的患者发生弥散性血管内凝血（DIC）的风险明显高于对照组患者。此外，在CD34HLA-DR组中观察到与预后不良相关的免疫表型分化簇（CD标志物）表达率较低。在分子水平上，该亚组中核磷蛋白1（NPM1）突变频率增加，威尔姆斯瘤1（WT1）基因表达增加。然而，与预期预后良好的患者相反，具有CD34HLA-DR免疫表型的低危组患者的总生存期明显短于对照组患者。
研究结果突出显示，表现出CD34HLA-DR免疫表型的患者是一个具有特定临床和分子特征的独特AML亚组，尤其是易患DIC，这影响了预后。这一发现对AML治疗的风险分层和潜在靶向治疗具有重要意义。
