Division of Transfusion Medicine, Cell Therapeutics and Haemostaseology, LMU University Hospital, LMU Munich, 81377 Munich, Germany.
Cells. 2023 Dec 29;13(1):78. doi: 10.3390/cells13010078.
Hemato-oncological diseases account for nearly 10% of all malignancies and can be classified into leukemia, lymphoma, myeloproliferative diseases, and myelodysplastic syndromes. The causes and prognosis of these disease entities are highly variable. Most entities are not permanently controllable and ultimately lead to the patient's death. At the molecular level, recurrent mutations including chromosomal translocations initiate the transformation from normal stem-/progenitor cells into malignant blasts finally floating the patient's bone marrow and blood system. In acute myeloid leukemia (AML), the so-called master transcription factors such as RUNX1, KMT2A, and HOX are frequently disrupted by chromosomal translocations, resulting in neomorphic oncogenic fusion genes. Triggering ex vivo expansion of primary human CD34+ stem/progenitor cells represents a distinct characteristic of such chimeric AML transcription factors. Regarding oncogenic mechanisms of AML, most studies focus on murine models. However, due to biological differences between mice and humans, findings are only partly transferable. This review focuses on the genetic manipulation of human CD34+ primary hematopoietic stem/progenitor cells derived from healthy donors to model acute myeloid leukemia cell growth. Analysis of defined single- or multi-hit human cellular AML models will elucidate molecular mechanisms of the development, maintenance, and potential molecular intervention strategies to counteract malignant human AML blast cell growth.
血液肿瘤疾病约占所有恶性肿瘤的 10%,可分为白血病、淋巴瘤、骨髓增殖性疾病和骨髓增生异常综合征。这些疾病实体的病因和预后差异很大。大多数疾病实体无法永久控制,最终导致患者死亡。在分子水平上,包括染色体易位在内的反复突变会启动正常干细胞/祖细胞向恶性母细胞的转化,最终使患者的骨髓和血液系统中充满恶性母细胞。在急性髓细胞白血病(AML)中,RUNX1、KMT2A 和 HOX 等所谓的主转录因子经常因染色体易位而被破坏,导致新的致癌融合基因。体外触发原代人 CD34+干细胞/祖细胞的扩增是这种嵌合 AML 转录因子的一个显著特征。关于 AML 的致癌机制,大多数研究都集中在鼠模型上。然而,由于老鼠和人类之间存在生物学差异,研究结果只能部分转移。这篇综述重点介绍了对来自健康供体的人 CD34+原代造血干细胞/祖细胞进行基因操作,以模拟急性髓细胞白血病细胞的生长。分析定义明确的单或多击人类细胞 AML 模型将阐明疾病发展、维持以及潜在的分子干预策略的分子机制,以对抗恶性人类 AML 母细胞的生长。