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骨髓增生异常综合征患者的核型演变

Karyotypic evolution in patients with myelodysplastic syndromes.

作者信息

Benítez J, Carbonell F, Sanchez Fayos J, Heimpel H

出版信息

Cancer Genet Cytogenet. 1985 Mar 15;16(2):157-67. doi: 10.1016/0165-4608(85)90010-x.

Abstract

Serial cytogenetic studies were performed in 33 patients with myelodysplastic syndrome in order to establish the frequency of karyotypic evolution and to correlate the chromosome and clinical findings during the course of the disease. Fifteen of the 33 patients (45%) showed abnormalities in the first cytogenetic study and this percentage increased to 57% during the course of the disease. A stable karyotype (normal or abnormal) was found in 19 patients (58%), whereas the rest (42%) showed an unstable karyotype. Trisomy 8, monosomy 7, and del5q were the most frequent abnormalities, not only at presentation, but also during karyotypic evolution. Seven patients (23%) with a known evolution proceeded to leukemia; four of them had stable (22%) and three unstable (25%) karyotypes; however, 33% of patients with unstable karyotypes and only 5% with stable karyotypes died from complications of the disease. Our results suggest that karyotypic evolution is relatively frequent in these patients; this evolution could be related to a poor clinical prognosis, either evolving to leukemia or death.

摘要

对33例骨髓增生异常综合征患者进行了系列细胞遗传学研究,以确定核型演变的频率,并将疾病过程中的染色体与临床发现相关联。33例患者中有15例(45%)在首次细胞遗传学研究中显示异常,这一比例在疾病过程中增至57%。19例患者(58%)发现核型稳定(正常或异常),其余患者(42%)显示核型不稳定。三体8、单体7和5q缺失是最常见的异常,不仅在初诊时如此,在核型演变过程中也是如此。7例(23%)已知发生演变的患者发展为白血病;其中4例核型稳定(22%),3例核型不稳定(25%);然而,核型不稳定的患者中有33%、核型稳定的患者中仅有5%死于疾病并发症。我们的结果表明,这些患者中核型演变相对常见;这种演变可能与不良的临床预后相关,要么发展为白血病,要么导致死亡。

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