Department of Biomedical Sciences, Sections of Hematology, University of Catania, Catania, Italy.
Acta Oncol. 2010 May;49(4):506-8. doi: 10.3109/02841861003660031.
Cytogenetic variants of the Philadelphia (Ph) chromosome can be observed in 5-8% of patients diagnosed with Chronic Myelogenous Leukemia (CML), and usually involve at least one chromosome other than 9 and 22. Despite the genetically heterogeneous nature of these alterations, available data indicate that CML patients displaying complex variant translocations (CVTs) do not exhibit a less favorable outcome as compared to individuals presenting conventional Ph-positive CML.
We report our experience with 10 CML patients carrying CVTs among 153 newly diagnosed cases followed at our Institution.
Unlike previously published reports, in our series only two CML patients exhibiting CVTs achieved an optimal response to tyrosine kinase inhibitors (TKI) treatment. The remaining eight patients obtained either a suboptimal response or failed drug therapy. Our data suggest that the presence of CVTs at diagnosis might confer an unfavorable clinical outcome, as these genetic alterations might be markers of genomic instability and indicate a higher likelihood of disease progression.
在诊断为慢性髓性白血病（CML）的患者中，可观察到费城（Ph）染色体的细胞遗传学变异，这些变异通常涉及除 9 号和 22 号以外的至少一条染色体。尽管这些改变具有遗传异质性，但现有数据表明，与表现为常规 Ph 阳性 CML 的个体相比，显示复杂变异易位（CVT）的 CML 患者的预后并不差。
我们报告了在我们机构随访的 153 例新诊断 CML 患者中，10 例携带 CVT 的患者的经验。
与之前发表的报告不同，在我们的系列中，只有两名表现为 CVT 的 CML 患者对酪氨酸激酶抑制剂（TKI）治疗达到了最佳反应。其余 8 名患者的反应要么不佳，要么药物治疗失败。我们的数据表明，诊断时存在 CVT 可能会导致不利的临床结局，因为这些遗传改变可能是基因组不稳定性的标志物，并表明疾病进展的可能性更高。
