Strasser Bernhard, Mustafa Sebastian, Seier Josef, Tomasits Josef, Haushofer Alexander
Institute of Clinical Chemistry and Laboratory Medicine, Klinikum Wels-Grieskirchen 1, 4600 Wels, Austria.
Department of Internal Medicine, Johannes Kepler University, 4040 Linz, Austria.
Diagnostics (Basel). 2025 Feb 6;15(3):383. doi: 10.3390/diagnostics15030383.
Acute myeloid leukemia (AML) complicated by disseminated intravascular coagulation (DIC) poses major diagnostic and therapeutic challenges. While DIC is well documented in acute promyelocytic leukemia, its manifestations in non-APL AML remain underexplored, necessitating precise diagnostic strategies for effective management. AML patients with overt DIC were analyzed, including morphological, immunophenotypic, cytogenetic, and genetic evaluations. DIC was diagnosed using the ISTH scoring system, and AML subtypes were classified following WHO criteria. Three diagnostic patterns were identified. (1) Acute promyelocytic leukemia: Leukemia characterized by rearrangements, co-mutations, and frequent Auer rods and faggot bundles. Immunocytological analysis showed CD34 and HLA-DR negativity. (2) AML with and/or mutations: A high prevalence of cup-like blasts was found in 70% of cases. mutations, often co-occurring with , dominated, while karyotypes were typically normal. Immunophenotyping revealed strong myeloid marker expression (MPO+, CD13+, and CD33+), with occasional CD34 negativity. (3) AML with monocytic differentiation: Leukemia defined by monoblastic/promonocytic morphology, mutations, and complex karyotypes or 11q23 rearrangements. Immunophenotyping demonstrated a dominance of monocytic markers (CD4+, CD14+, CD15+, and CD64+). Two patients presented unique profiles with no alignment to these patterns. This study highlights distinct hematopathological patterns of AML with overt DIC, providing a framework for early and precise diagnosis. Recognizing these patterns is critical for tailoring diagnostic and therapeutic approaches to improve outcomes in this high-risk population.
急性髓系白血病（AML）合并弥散性血管内凝血（DIC）带来了重大的诊断和治疗挑战。虽然DIC在急性早幼粒细胞白血病中有充分记录，但其在非急性早幼粒细胞白血病AML中的表现仍未得到充分探索，因此需要精确的诊断策略以进行有效管理。对伴有明显DIC的AML患者进行了分析，包括形态学、免疫表型、细胞遗传学和基因评估。使用国际血栓与止血学会（ISTH）评分系统诊断DIC，并根据世界卫生组织（WHO）标准对AML亚型进行分类。确定了三种诊断模式。（1）急性早幼粒细胞白血病：以重排、共突变以及频繁出现的Auer小体和柴捆样小体为特征的白血病。免疫细胞分析显示CD34和HLA-DR阴性。（2）伴有 和/或 突变的AML：70%的病例中发现高比例的杯状原始细胞。 突变通常与 共同出现且占主导地位，而核型通常正常。免疫表型分析显示髓系标志物表达强烈（MPO+、CD13+和CD33+），偶尔CD34阴性。（3）伴有单核细胞分化的AML：由单核母细胞/前单核细胞形态、 突变以及复杂核型或11q23重排定义的白血病。免疫表型分析显示单核细胞标志物（CD4+、CD14+、CD15+和CD64+）占主导。两名患者呈现出与这些模式不符的独特特征。本研究突出了伴有明显DIC的AML的不同血液病理学模式，为早期精确诊断提供了一个框架。识别这些模式对于制定诊断和治疗方法以改善这一高危人群的预后至关重要。
