骨髓增生异常综合征中WT1基因的突变分析
Mutation analysis of the WT1 gene in myelodysplastic syndromes.
作者信息
Hosoya N, Miyagawa K, Mitani K, Yazaki Y, Hirai H
机构信息
Third Department of Internal Medicine, Faculty of Medicine, University of Tokyo.
出版信息
Jpn J Cancer Res. 1998 Aug;89(8):821-4. doi: 10.1111/j.1349-7006.1998.tb00634.x.
The WT1 tumor suppressor gene was examined for mutations in a panel of 44 patients with myelodysplastic syndromes (MDS) including acute myelogenous leukemias (AML) secondary to MDS, using polymerase chain reaction single-strand conformation polymorphism (PCR-SSCP) analysis and sequencing analysis. A WT1 mutation was detected in one out of 17 cases of AML secondary to MDS. This mutation exists upstream of the zinc finger region and is predicted to produce a truncated WT1 protein lacking the zinc finger region. No mutations were detected in 27 MDS patients who had not progressed to AML. This is the first report of analysis for WT1 mutations in a large number of MDS patients, suggesting that WT1 mutations are uncommon in MDS. Abnormalities in this gene may, however, contribute to a small proportion of cases showing progression from MDS into AML.
采用聚合酶链反应单链构象多态性（PCR-SSCP）分析和测序分析，对包括继发于骨髓增生异常综合征（MDS）的急性髓系白血病（AML）在内的44例骨髓增生异常综合征患者进行WT1肿瘤抑制基因突变检测。在17例继发于MDS的AML病例中，有1例检测到WT1突变。该突变存在于锌指区域上游，预计会产生一种缺乏锌指区域的截短型WT1蛋白。在27例未进展为AML的MDS患者中未检测到突变。这是首次对大量MDS患者进行WT1突变分析的报告，表明WT1突变在MDS中并不常见。然而，该基因的异常可能在一小部分显示从MDS进展为AML的病例中起作用。
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