Fenwarth Laurène, Podvin Benjamin, Vasseur Loïc, Lebon Delphine, Couillez Guillaume, Berthon Céline, Caulier Alexis, Fournier Elise, Bories Claire, Carpentier Benjamin, Tricot Sabine, Wattebled Kevin-James, Roche-Lestienne Catherine, Lestringant Valentin, Hauspie Carine, Celli-Lebras Karine, Heiblig Maël, Dombret Hervé, Itzykson Raphael, Marolleau Jean-Pierre, Garçon Loïc, Preudhomme Claude, Duployez Nicolas, Boyer Thomas
Laboratory of Hematology, Centre Hospitalier Universitaire (CHU) de Lille, Lille, France.
Univ. Lille, CNRS, Inserm, CHU Lille, UMR9020-U1277-Canther-Cancer Heterogeneity, Plasticity and Resistance to Therapies, Lille, France.
Eur J Haematol. 2025 Aug;115(2):185-192. doi: 10.1111/ejh.14435. Epub 2025 May 15.
The evolution of acute myeloid leukemia (AML) classifications has progressively shifted the diagnostic focus toward genetic criteria. Nevertheless, morphology remains a key element in clinical practice, often serving as the initial trigger for additional molecular investigations. The diagnosis of acute erythroleukemia (AEML), initially defined by the FAB group, is no longer recognized as a distinct entity in the latest WHO and ICC classifications. Some studies have indicated that AEML shares similarities with myelodysplastic neoplasms, including a high frequency of TP53 mutations and adverse karyotypes. Here, we conducted a retrospective analysis in adults with AEML defined using historical morphologic criteria (≥ 50% erythroid precursors and ≥ 20% blasts among non-erythroid cells). In contrast to older patients, young adults (18-60 years) exhibit unique genetic profiles including a high prevalence of normal karyotypes (65%), NPM1 (35%) and UBTF (23%) mutations. AEML morphology in NPM1-mutated cases did not impact clinical outcomes but was associated with specific molecular features, including an enrichment of WT1 and cohesin gene mutations. In this age group, our findings support that morphologically defined AEML often corresponds to AML according to current genetic criteria, consistent with recent classification systems that prioritize molecular features over morphology.
急性髓系白血病（AML）分类的演变已逐渐将诊断重点转向基因标准。然而，形态学在临床实践中仍然是一个关键要素，常常作为进一步分子研究的初始触发因素。急性红白血病（AEML）最初由FAB小组定义，在最新的世界卫生组织（WHO）和国际癌症研究机构（ICC）分类中不再被视为一个独立的实体。一些研究表明，AEML与骨髓增生异常肿瘤有相似之处，包括TP53突变的高频率和不良核型。在此，我们对使用历史形态学标准定义的成人AEML患者进行了回顾性分析（非红系细胞中≥50%的红系前体细胞和≥20%的原始细胞）。与老年患者不同，年轻成人（18 - 60岁）表现出独特的基因特征，包括正常核型的高患病率（65%）、NPM1（35%）和UBTF（23%）突变。NPM1突变病例中的AEML形态学不影响临床结局，但与特定分子特征相关，包括WT1和黏连蛋白基因突变的富集。在这个年龄组中，我们的研究结果支持，根据当前基因标准，形态学定义的AEML通常对应于AML，这与最近优先考虑分子特征而非形态学的分类系统一致。
