【摘要】 目的探讨胃肠道间质瘤(gastrointestinal stromal tumors,GISTs)中基因组染色体的改变及相关因子与预后因素之间的关系,为评价GISTs预后提供较可靠的证据。方法应用比较基因组杂交(comparative genomic hybridization,CGH)技术检测20例GISTs的遗传学改变位点;免疫组化方法检测部分位点改变区域且与GISTs预后相关因子nm23、Cmyc、CerbB-2和E2F1等的表达情况。结果染色体缺失多于扩增,14q、22q缺失和17q、8q扩增与肿瘤侵袭危险性无关(P>0.05),而1p、15q、13q缺失和5p、20q扩增在高级别GISTs中检出率明显增加(P<0.05),且可能与GISTs临床复发、转移、死亡的生物学行为相关。Cmyc和E2F1的表达阳性率分别为75%、65%,二者与GISTs恶性度有关(P<0.05),其6例进行性疾病(pro-gressive disease,PD)均为阳性;nm23阳性率为70%,与GISTs恶性度无关(P>0.05),CerbB-2未检出1例阳性。结论GISTs中存在一定比例的缺失或扩增,14q、22q缺失常见,Cmyc、E2F1蛋白可能为8q、20q扩增的靶点,且二者可能为GISTs预后不良的因素。更多还原

【Abstract】 Objective To investigate the changes of genome chromosomal and the relationship between its related factors and prognosis in gastrointestinal stromal tumors(GISTs),and to provide a reliable evidence for prognosis. Methods Comparative genomic hybridization(CGH)and EnVision immunohistochemical method were used to detect alteration of all genome chromosome and expression of related factors nm23,Cmyc,CerbB-2 and E2F1 in 20 cases of GISTs. Results The loss was much more than the amplification in GISTs,and the loss of 14q,22q and the amplification of 17q,8q were not related to invasion risk of tumor(P>0.05).The loss of 1p,15q,13q and the amplification of 5p,20q increased more in high-grade than that in low-grade of GISTs(P<0.05),and they were related to recurrence,metastasis and death of GISTs.The positive expression rates of Cmyc and E2F1 were 75% and 65%,respectively.Cmyc and E2F1 were positive in all PD cases of GISTs,and were related to the malignant degree of GISTs(P<0.05).The positive expression rate of nm23 was 70%,and was not related to the malignant degree of GISTs(P>0.05).CerbB-2 was not detected in 20 cases. Conclusion There are some loss and amplification in GISTs,especially the loss of 14q and 22q.Cmyc,E2F1 protein may be the targets of 8q,20q gene amplification respectively,and they would be the factors of prognosis mala of GISTs.更多还原