Abstract：
Chronic myeloid leukemia is defined by the presence of the Philadelphia translocation t (9; 22) resulting in the BCR::ABL1 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 ABL1 kinase mutations. In the other MPN subtypes the additional mutations besides driver gene mutations in JAK2, MPL and CALR 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.
摘要：
慢性髓性白血病定义为费城易位t(9;22)的存在导致BCR::ABL1融合。其他骨髓增殖性肿瘤（MPN）亚型也携带典型的染色体异常，然而，对于MPN的特定实体来说，这并不是什么代名词。根据世界卫生组织的分类，这些实体之间的区别仍然是基于细胞学的整合，组织病理学和分子研究结果。CML进入加速期和激发期通常由额外的染色体异常和ABL1激酶突变驱动。在其他MPN亚型中,除JAK2、MPL和CALR中的驱动基因突变之外的其他突变对进展倾向具有决定性影响。此外,已经获得驱动突变和风险传递额外突变的序列似乎起着重要作用。这里,我们回顾了CML和MPN的细胞遗传学和分子学变化,这些变化应在诊断和疾病监测期间进行评估.
