白血病细胞WT瘤基因突变的检测  

Detection of Mutations in the Wilms' Tumor Gene (WT1) in Leukemias

作　　者：卢青[1] 刘革修[2] 韩建英[3] 

机构地区：[1]浙江省杭州市第一人民医院,浙江杭州310006 [2]暨南大学医学院血液研究所 [3]湖南省南华大学附属第二医院血液科

出　　处：《中国医师杂志》2002年第10期1094-1095,1098,共3页Journal of Chinese Physician

摘　　要：目的　瘤基因 (WT1)突变与白血病发病的关系。方法　采用PCR -SSCP技术检测 32例白血病病人标本 ,其中小于 16岁的患者 9例 ,成人 2 3例 (平均年龄 33岁 ) ;急性淋巴细胞白血病 15例 ,慢性粒细胞性白血病 8例 ;18例正常人血标本。结果　有 3例白血病标本的PCR产物即WT1基因电泳迁移异常 :1例为急性淋巴细胞白血病患者、2例为急性粒细胞性白血病患者 ;分别位于外显子 7、6和 10。临床追踪观察发现该 3例白血病患者经化疗未能达到完全缓解 ,全部于发病后 3个月内死亡 ,而WT1基因正常的白血病患者经化疗后大多数能达到部分缓解或完全缓解 ,生存期明显延长。正常血标本PCR产物和SSCP结果无明显异常。结论　WT1基因突变与白血病发病有关 ,有助于白血病辅助诊断和预后的分析。Objective To analyze mutations in the Wilms tumor gene (WT1) in Ieukemogenesis.Methods WT1 gene in peripheral blood was determined by PRC-SSCP technique,in 32 cases of acute leukemia,included 9 cases of acute granulocytic leukemia,8 cases of chronic granulocytic leukemia(mean age-33 years) and 16 specimens of normal subjects were also detected.Results Mutations in the WT1 gene in 3 of 32 leukemias were found .WT1 mutations were found in 11% of cases of acute lymphoblastic leukemia and in 13% of cases of acute myeloid leukemia,in which they were associtated with a poor response to chemotherapy.Conclusions The mutations in Wilms tumor gene WT1 are associated with leukemogenesis and its therapy,which WT1 transcripts may prove a significant tumor marker, as a MRD monitor in evaluating remission status and early relapse,and may be useful in prognosis of acute leukemia.

关 键 词：白血病 Wilms瘤基因 PRC-SSCP 诊断 预后 基因突变 

分 类 号：R733.7[医药卫生—肿瘤]