例儿童骨髓增生异常综合征患者的WT基因表达.DOC

12例儿童骨髓增生异常综合征患者的WT1基因表达 摘要 目的：探讨12例儿童骨髓增生异常综合征(MDS)患者骨髓细胞的WT1基因表达。方法：采用逆转录-聚合酶链反应（RT-PCR）方法检测儿童MDS患者骨髓细胞WT1基因水平，结果及评价标准由我所基因检测室提供，正常值为0-0.04%，表达异常为0.04%-0.4%，过表达为0.4%。结果：12例MDS患儿WT1基因的异常表达占66.7%（8/12），分别为难治性血细胞减少症（RCC）6例（6/8），伴原始细胞增多型（RAEB）2例（2/8）。WT1基因表达异常的8例患儿中，5例（5/8）按IPSS-R预后评分系统为高危患者（RCC占3例，RAEB占2例），5例（5/8）表现为复杂核型或不良核型，3例（3/8）为过表达（1例为del(7q)，1例为del(5q)伴del(7q)，1例为+8异常）；而5例（5/8）表达异常者中，2例（2/5）存在复杂染色体核型。由此可以看出，WT1基因的异常表达可能与MDS患儿的高危险程度及不良的骨髓细胞染色体核型有关。结论：WT1基因可能作为儿童MDS患者的预后标记物，与MDS患儿的高危险程度及不良的骨髓细胞染色体核型有关。 关键词：儿童 骨髓增生异常综合征 WT1基因 The Expression of WT1 in Twelve Children of Myelodysplastic Syndrome Abstract Objective To explore the expression of Wilms’Tumor 1 gene （WT1） in twelve children of Myelodysplastic Syndrome（MDS）. Methods A total of 12 children of MDS were enrolled to test WT1 expression level in bone marrow cells by real time quantitative reverse transcription-PCR method.The results and evaluation standard were provided by gene department of our institute.The normal range,abnormal and over expression are 0-0.04%,0.04%-0.4% and 0.4% respectively. Results Abnormal expression accounts for 66.7%（8/12），RCC and RAEB are 66/8） and 2 patients（2/8） respectively.And 5 cases（5/8）are high risk patients based on IPSS-R（3 cases of RCC,and 2 cases of RAEB）,meanwhile,they are all complex or poor karyotypes. In the 8 cases（8/11）of abnormal expression,3 cases（3/8）are overexpression（including del（7q）,del（7q）and del（5q） and +8）;in regard to the abnormal expression of 5 patients（5/8） ,2 cases（2/5） are complex karyotypes.It is obvious that the abnormal expression of WT1 may correlate to high risks and poor karyotypes of MDS. Conclusion The expression level of WT1 may serve as one of the prognostic makers of MDS of children,and its abnormal expression may correlate with high risk and bad karyotypes of chromosome. Key words: children Myelodysplastic Syndrome WT1 gene 12例儿童骨髓增生异常综合征患者的WT1基因表达 关键词：儿童 骨髓增生异常综合征 WT1基因 骨髓增生异常综合征（Myelodysplastic Syndr