Solé F, Woessner S, Florensa L, Pérez-Losada A, Acín P, Besses C, García-Eroles L, Sans-Sabrafen J
Laboratori de Citologia Hematològica, Hospital Central L'Aliança, Barcelona.
Med Clin (Barc). 1998 Jan 31;110(3):94-8.
We describe the cytogenetic results of 93 patients with myelodysplastic syndromes (MDS). The main object of this report is to analyze the prognostic value of the karyotype in patients with MDS, in relation to the evolution to acute leukemia and the survival time.
Cytogenetic studies were performed in 93 untreated cases of MDS between 1985 and 1994. Overall survival and the evolution to acute leukemia were analyzed.
Among 93 patients who were examined at the time of diagnosis, 40 had an abnormal karyotype (43%). The highest frequency of chromosome abnormalities was observed in refractory anaemia with excess of blasts (RAEB) (65.7%) and RAEB in transformation (RAEB-t) (40%) and the lowest in refractory anaemia with ringed sideroblasts (RARS) (10%). The chromosomes most frequently involved were: 5, 7, 8, 11, 12 and 17. No relationship was found between FAB subtypes and the type of chromosomal abnormalities. In respect to the prognosis, an abnormal karyotype, and a complex karyotype were related with a higher frequency of evolution to acute leukemia. A model based on karyotype could divide patients in two groups: poor prognosis (patients with an abnormal karyotype, with involvement of chromosome 7, trisomy 8 or with a complex karyotype), and a good prognosis (patients with normal karyotype).
The cytogenetic studies are very useful in the study of MDS for their clinical implications.
我们描述了93例骨髓增生异常综合征（MDS）患者的细胞遗传学结果。本报告的主要目的是分析MDS患者核型的预后价值，及其与急性白血病演变和生存时间的关系。
对1985年至1994年间93例未经治疗的MDS病例进行了细胞遗传学研究。分析了总生存率和向急性白血病的演变情况。
在诊断时接受检查的93例患者中，40例核型异常（43%）。在伴有过多原始细胞的难治性贫血（RAEB）（65.7%）和转化中的RAEB（RAEB-t）（40%）中观察到染色体异常的频率最高，而在伴有环形铁粒幼细胞的难治性贫血（RARS）中最低（10%）。最常受累的染色体为：5、7、8、11、12和17。未发现FAB亚型与染色体异常类型之间存在关联。关于预后，异常核型和复杂核型与向急性白血病演变的较高频率相关。基于核型的模型可将患者分为两组：预后不良（核型异常、7号染色体受累、8号染色体三体或具有复杂核型的患者）和预后良好（核型正常的患者）。
细胞遗传学研究因其临床意义在MDS研究中非常有用。
