Chase A, Huntly B J, Cross N C
Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wilts SP2 8BJ, UK.
Best Pract Res Clin Haematol. 2001 Sep;14(3):553-71. doi: 10.1053/beha.2001.0154.
The standard Philadelphia (Ph) translocation t(9;22), its variants and a proportion of Ph-negative cases are positive for the BCR-ABL fusion gene, as determined by molecular analysis. Extensive deletions of chromosome 9 and 22 derived sequences around the translocation breakpoints on the derivative 9 are seen in 10-30% of patients at diagnosis and may confer a worse prognosis. Additional cytogenetic changes can occur in the few months before or during disease progression and are often specific for blast morphology; however, the molecular basis of the most common additional cytogenetic abnormalities is largely unknown. Cytogenetics is important for monitoring patient response to treatment but is increasingly being replaced by the more sensitive and less invasive techniques of RT-PCR and FISH.
通过分子分析确定，标准的费城（Ph）易位t(9;22)、其变异型以及一部分Ph阴性病例的BCR-ABL融合基因呈阳性。在10%至30%的患者诊断时可见9号和22号染色体在衍生9号染色体上易位断点周围的序列广泛缺失，这可能预示着更差的预后。在疾病进展前或进展期间的几个月内可能会出现其他细胞遗传学改变，且这些改变通常与原始细胞形态有关；然而，最常见的其他细胞遗传学异常的分子基础在很大程度上尚不清楚。细胞遗传学对于监测患者的治疗反应很重要，但越来越多地被更敏感、侵入性更小的RT-PCR和FISH技术所取代。
