Chronic myeloid leukemia is defined by the presence of the Philadelphia translocation t (9; 22) resulting in the fusion. The other myeloproliferative neoplasms (MPN) subtypes also carry typical chromosomal abnormalities, which however are not pathognomonic for a specific entity of MPN. According to the WHO classification the distinction between these entities is still based on the integration of cytological, histopathological and molecular findings. Progression of CML into accelerated and blastic phase is usually driven by additional chromosome abnormalities and kinase mutations In the other MPN subtypes the additional mutations besides driver gene mutations in , and have a decisive impact on the propensity for progression. In addition, the sequence in which the driver mutations and risk conveying additional mutations have been acquired appears to play an important role. Here, we review cytogenetic and molecular changes in CML and MPN that should be evaluated during diagnosis and disease monitoring.

中文翻译：

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CML 和其他骨髓增殖性肿瘤的细胞遗传学和基因组学

慢性粒细胞白血病的定义是存在导致融合的费城易位 t (9; 22)。其他骨髓增生性肿瘤 (MPN) 亚型也携带典型的染色体异常，但对于特定的 MPN 实体来说并不具有特征性。根据世界卫生组织的分类，这些实体之间的区别仍然基于细胞学、组织病理学和分子发现的整合。 CML 进展到加速期和急变期通常是由额外的染色体异常和激酶突变驱动的。在其他 MPN 亚型中，除了驱动基因突变外，额外的突变对进展倾向具有决定性影响。此外，获得驱动突变和风险传递附加突变的序列似乎也发挥着重要作用。在这里，我们回顾了 CML 和 MPN 的细胞遗传学和分子变化，这些变化应在诊断和疾病监测过程中进行评估。