中华小儿外科杂志
中華小兒外科雜誌
중화소인외과잡지
CHINESE JOURNAL OF PEDIATRIC SURGERY
2008年
7期
399-403
,共5页
刘卓%张丽丽%吴建新%李媛媛%欧阳胜荣
劉卓%張麗麗%吳建新%李媛媛%歐暘勝榮
류탁%장려려%오건신%리원원%구양성영
微卫星%杂合性,丢失%肾母细胞瘤%神经母细胞瘤
微衛星%雜閤性,丟失%腎母細胞瘤%神經母細胞瘤
미위성%잡합성,주실%신모세포류%신경모세포류
Microsatellite%Loss of heterozygosity%Nephroblastoma%Neuroblastoma
目的 探讨二种儿童胚胎性肿瘤--肾母细胞瘤和神经母细胞瘤中微卫星不稳定性(microsatellite instability,MSI)与杂合性缺失(loss of heterozygosity,LOH)的状态.方法 提取30例肿瘤组织及15例外周血DNA,选取14个微卫星位点(BAT125、BAT26、D2S119、D2s123、D2S136、D2S288、D2S367、D2S391、D3S1029、D3S1076、D3S1277、D3S1561、133S1611及D3S1612),用PCR扩增及变性聚丙烯酰胺凝胶电泳方法 检测微卫星不稳定性和杂合性缺失.结果 30例肿瘤标本中8例出现MSI,包括5例肾母细胞瘤和3例神经母细胞瘤.1例神经母细胞瘤出现LOH;队T25、D2S119、132S123、I)2S136、D2S288、132S391、D3S1076、D3S1277及D3S1611 9个位点的MSI阳性率分别为16.7%(5/30),14.3%(1/7),14.3%(1/7),14.3%(1/7).28.6%(2/7),28.6%(1/7),14.3%A(1/7),14.3%(1/7)和14.3%(1/7);D2S119、133S1029、D2S367、及D3S1611 4个位点的LOH阳性率均为14.3%(1/7).结论微卫星不稳定性和杂合性缺失现象存在于部分儿童胚胎性肿瘤中,提示此类肿瘤具有基因组不稳定性,DNA错配修复系统异常可能与其发生有关.
目的 探討二種兒童胚胎性腫瘤--腎母細胞瘤和神經母細胞瘤中微衛星不穩定性(microsatellite instability,MSI)與雜閤性缺失(loss of heterozygosity,LOH)的狀態.方法 提取30例腫瘤組織及15例外週血DNA,選取14箇微衛星位點(BAT125、BAT26、D2S119、D2s123、D2S136、D2S288、D2S367、D2S391、D3S1029、D3S1076、D3S1277、D3S1561、133S1611及D3S1612),用PCR擴增及變性聚丙烯酰胺凝膠電泳方法 檢測微衛星不穩定性和雜閤性缺失.結果 30例腫瘤標本中8例齣現MSI,包括5例腎母細胞瘤和3例神經母細胞瘤.1例神經母細胞瘤齣現LOH;隊T25、D2S119、132S123、I)2S136、D2S288、132S391、D3S1076、D3S1277及D3S1611 9箇位點的MSI暘性率分彆為16.7%(5/30),14.3%(1/7),14.3%(1/7),14.3%(1/7).28.6%(2/7),28.6%(1/7),14.3%A(1/7),14.3%(1/7)和14.3%(1/7);D2S119、133S1029、D2S367、及D3S1611 4箇位點的LOH暘性率均為14.3%(1/7).結論微衛星不穩定性和雜閤性缺失現象存在于部分兒童胚胎性腫瘤中,提示此類腫瘤具有基因組不穩定性,DNA錯配脩複繫統異常可能與其髮生有關.
목적 탐토이충인동배태성종류--신모세포류화신경모세포류중미위성불은정성(microsatellite instability,MSI)여잡합성결실(loss of heterozygosity,LOH)적상태.방법 제취30례종류조직급15예외주혈DNA,선취14개미위성위점(BAT125、BAT26、D2S119、D2s123、D2S136、D2S288、D2S367、D2S391、D3S1029、D3S1076、D3S1277、D3S1561、133S1611급D3S1612),용PCR확증급변성취병희선알응효전영방법 검측미위성불은정성화잡합성결실.결과 30례종류표본중8례출현MSI,포괄5례신모세포류화3례신경모세포류.1례신경모세포류출현LOH;대T25、D2S119、132S123、I)2S136、D2S288、132S391、D3S1076、D3S1277급D3S1611 9개위점적MSI양성솔분별위16.7%(5/30),14.3%(1/7),14.3%(1/7),14.3%(1/7).28.6%(2/7),28.6%(1/7),14.3%A(1/7),14.3%(1/7)화14.3%(1/7);D2S119、133S1029、D2S367、급D3S1611 4개위점적LOH양성솔균위14.3%(1/7).결론미위성불은정성화잡합성결실현상존재우부분인동배태성종류중,제시차류종류구유기인조불은정성,DNA착배수복계통이상가능여기발생유관.
Objective To explore the role of microsatellite instability (MSI) and loss of het erozygosity (LOH) in two kinds of children embryonic tumors: nephroblastoma and neuroblastoma Methods DNA was extracted from 30 tumor tissues and 15 healthy peripheral blood samples. MSI and LOH status was determined by POR and denatured polyacrylamide gel eleetrophoresis at 14 microsatellite loci (BAT25, BAT26, D2S119, D2S123, D2S136, D2S288, D2S367, D2S391, D3S1029, D3S1276, D3S1277, D3S1561, D3S1611 and D3S1612). Results (1) Among these 30 patients, MSI was identified in 8 patients, including 5 patients with nephroblastoma and 3 with neuroblastoma, respectively. LOH was identified in 1 patient with neuroblastoma. (2) MSI frequencies of BAT25, D2S123, D2S119, D2S136, D2S288, D2S391, D3S1076, D3S1277 and D3S1611 were 16. 7%(5/30), 14. 3%(1/7), 14. 3%(1/7),14. 3%(1/7),28. 6%(2/7),28. 6%(1/7), 14. 3%(1/7),14. 3%(1/7) and 14. 3%(1/7) , receptively. LOH frequencies of D2S119, D3S1029, D2S367 and D3S1611 were the same of 14. 3%(1/7). Conclusions The results show that MSI and LOH occurred in a subset of children with embryonic tumors and implicate that the defective mismatch repair system may involve in genomic instability in nephroblastoma and neuroblastoma.
