利用杯状核形态学早期预测和简化急性髓性白血病的核嗜酸酶突变状态

Q4 Medicine Medicina Pub Date : 2024-09-04 DOI:10.3390/medicina60091443
Ljubomir Jakovic, Vesna Djordjevic, Nada Kraguljac Kurtovic, Marijana Virijevic, Mirjana Mitrovic, Lazar Trajkovic, Ana Vidovic, Andrija Bogdanovic
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引用次数: 0

摘要

背景和目的:随着针对核嗜蛋白基因(NPM1)突变的急性髓性白血病(AML)的新型疗法的出现,人们越来越需要对NPM1突变进行可靠的预测。本研究探讨了细胞形态学特征在早期预测 NPM1 突变急性髓性白血病中的作用。材料与方法:回顾性评估了5年内(2018-2023年)在一家机构诊断和治疗的212例核型正常的新发AML病例。根据世界卫生组织(WHO)的综合标准,包括基于实时鉴定的NPM1突变和正常核型,83/212(39.15%)例最终确诊为NPM1突变的急性髓细胞白血病。结果在 56/83 例(67%)患者中发现了杯样胚泡(CLBs),这是提示 NPM1 突变型 AML 的细胞形态学特征。大多数病例(44/56,78.6%)的CLB≥10%。在 83 例 NPM1 突变的 AML 患者中,共有 27 例没有 CLB 形态(漏检)。此外,212 例患者中有 2 例出现 CLB 形态,但未证实 NPM1 突变(错判)。细胞形态学评估对CLB≥10%的阳性/阴性预测值分别为95.7%/75.6%,敏感性/特异性分别为53%/98.5%,准确率为80.7%。我们注意到,在无粒细胞成熟和有粒细胞成熟的急性髓细胞性白血病患者中,CLB(≥15%)的比例分别为77.8%和50%(NPM1突变预测的特异性为100%)。CLB与fms样酪氨酸激酶3(FLT3)突变有关(p = 0.03),但在CLB≥10%和CLB≥15%时无统计学意义。结论我们的调查证实,在诊断时对 CLB 进行形态学鉴定是早期预测 NPM1 突变的可靠且易于重复的工具,可简化基因检查以进行确认。这可能有助于临床医生考虑对特定患者及早实施个体化治疗。
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Early Prediction and Streamline of Nucleophosmin Mutation Status in Acute Myeloid Leukemia Using Cup-Like Nuclear Morphology
Background and Objectives: With the advent of novel therapies for nucleophosmin gene (NPM1)-mutated acute myeloid leukemia (AML), there is a growing need for the reliable prediction of NPM1 mutations. This study explored the role of cytomorphological features in the early prediction of NPM1-mutated AML. Materials and Methods: Altogether, 212 de novo AML cases with normal karyotypes, diagnosed and treated at a single institution within 5 years (2018–2023), were retrospectively evaluated. A final diagnosis of NPM1-mutated AML, based on the World Health Organization (WHO) integrated criteria, including real-time based identification of NPM1 mutation and normal karyotype, was established in 83/212 (39.15%) cases. Results: Cup-like blasts (CLBs), a cytomorphological feature suggestive of NPM1-mutated AML, were detected in 56/83 (67%) patients. Most cases (44/56, 78.6%) had CLB ≥ 10%. In total, 27 of 83 AML NPM1-mutated patients had no CLB morphology (missed call). Additionally, two of 212 had CLB morphology without confirmed NPM1 mutation (wrong call). The positive/negative predictive values of cytomorphological evaluation for CLB ≥ 10% were 95.7%/75.6%, with sensitivity/specificity of 53%/98.5%, while the accuracy was 80.7%. We noted an increased percentage of CLBs (≥15%) in 77.8% and 50% of patients with AML without and with granulocytic maturation, respectively (the specificity for NPM1 mutation prediction was 100%). CLB was associated with fms-like tyrosine kinase 3 (FLT3) mutation (p = 0.03), but, without statistical significance for CLB ≥ 10% and CLB ≥ 15%. Conclusions: Our investigation confirmed that the morphological identification of CLB at diagnosis represents a reliable and easily reproducible tool for the early prediction of NPM1 mutations, enabling a streamlined genetic work-up for its confirmation. This may facilitate considering the early administration of individualized therapies by clinicians for specific patients.
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来源期刊
Medicina
Medicina Medicine-Medicine (all)
CiteScore
0.10
自引率
0.00%
发文量
66
审稿时长
24 weeks
期刊介绍: Publicada con el apoyo del Ministerio de Ciencia, Tecnología e Innovación Productiva. Medicina no tiene propósitos comerciales. El objeto de su creación ha sido propender al adelanto de la medicina argentina. Los beneficios que pudieran obtenerse serán aplicados exclusivamente a ese fin.
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