Raynaud S D
Unité de cytogénétique des hémopathies malignes, hôpital de l'Archet, BP 79, 06202 Nice, France.
Pathol Biol (Paris). 2003 Aug;51(6):346-55. doi: 10.1016/s0369-8114(03)00111-1.
Cytogenetic abnormalities in myelodysplastic syndromes (MDS) are complex and heterogeneous. The most frequent rearrangements (gains or losses of genetic material) vary from patient to patient, and within the same patient. The prognostic value of these rearrangements has been extensively studied. They allowed the definition of a risk based classification system for MDS (the International Scoring System for evaluating Prognosis, IPSS), proven to be a highly useful method for evaluating prognosis in MDS patients. Despite recent progress in mapping and definition of minimally deleted chromosomal regions, the primary critical genetic events remain to be determined. The recurrent cytogenetic abnormalities associated with MDS are likely to be secondary events contributing to but not initiating the neoplastic phenotype of the disease.
骨髓增生异常综合征（MDS）中的细胞遗传学异常复杂且具有异质性。最常见的重排（遗传物质的增加或减少）在不同患者之间以及同一患者体内均有所不同。这些重排的预后价值已得到广泛研究。它们促成了基于风险的MDS分类系统（评估预后的国际评分系统，IPSS）的定义，该系统已被证明是评估MDS患者预后的一种非常有用的方法。尽管在最小缺失染色体区域的定位和定义方面取得了最新进展，但主要的关键遗传事件仍有待确定。与MDS相关的复发性细胞遗传学异常可能是促成但并非引发该疾病肿瘤表型的继发性事件。
