CAJ | 학술논문

目的利用自行设计的荧光原位杂交(FISH)多克隆分离探针,检测Xp11.2易位/TFE3基因融合相关性肾癌(Xp11.2易位性肾癌)中特征性的TFE3基因易位,探讨该探针在诊断Xp11.2易位性肾癌中的应用价值.方法收集南京大学医学院附属鼓楼医院2006至2013年临床诊断的30例肾癌病例,包括10例依据组织形态和转录因子E3(TFE3)免疫组化诊断的Xp11.2易位性肾癌,10例肾透明细胞癌,10例肾乳头状腺癌.根据Xp11.2易位性肾癌基因改变类型,设计针对性的多克隆分离探针,并在肿瘤石蜡包埋组织切片上使用该探针进行FISH检测,通过荧光显微镜观察组织切片中的荧光信号类型,判断肿瘤组织中是否存在TFE3基因的易位.结果 30份肿瘤组织切片均成功进行FISH检测.10份依据组织形态和TFE3免疫组化诊断的Xp11.2易位性肾癌标本中,9份FISH出现分离信号并达到阈值,检测为阳性,符合Xp11.2易位性肾癌诊断;1份只出现融合信号,检测为阴性,不符合Xp11.2易位性肾癌诊断.10份肾透明细胞癌和10份肾乳头状腺癌标本FISH只出现融合信号,检测均为阴性.结论单纯依靠组织学特征和免疫组化诊断Xp11.2易位性肾癌存在误诊的可能.利用FISH多克隆分离探针可以检测出Xp11.2易位性肾癌特征性的TFE3基因易位,是一种诊断Xp11.2易位性肾癌相对准确和客观的方法.
목적 이용자행설계적형광원위잡교(FISH)다극륭분리탐침,검측Xp11.2역위/TFE3기인융합상관성신암(Xp11.2역위성신암)중특정성적TFE3기인역위,탐토해탐침재진단Xp11.2역위성신암중적응용개치.방법 수집남경대학의학원부속고루의원2006지2013년림상진단적30례신암병례,포괄10례의거조직형태화전록인자E3(TFE3)면역조화진단적Xp11.2역위성신암,10례신투명세포암,10례신유두상선암.근거Xp11.2역위성신암기인개변류형,설계침대성적다극륭분리탐침,병재종류석사포매조직절편상사용해탐침진행FISH검측,통과형광현미경관찰조직절편중적형광신호류형,판단종류조직중시부존재TFE3기인적역위.결과 30빈종류조직절편균성공진행FISH검측.10빈의거조직형태화TFE3면역조화진단적Xp11.2역위성신암표본중,9빈FISH출현분리신호병체도역치,검측위양성,부합Xp11.2역위성신암진단;1빈지출현융합신호,검측위음성,불부합Xp11.2역위성신암진단.10빈신투명세포암화10빈신유두상선암표본FISH지출현융합신호,검측균위음성.결론 단순의고조직학특정화면역조화진단Xp11.2역위성신암존재오진적가능.이용FISH다극륭분리탐침가이검측출Xp11.2역위성신암특정성적TFE3기인역위,시일충진단Xp11.2역위성신암상대준학화객관적방법.
Objective To explore the value of self-designed fluorescent in situ hybridization (FISH) polyclonal break-apart probes specific for TFE3 gene in the diagnosis of Xp11.2 translocation renal cell carcinoma.Methods All tissue samples were collected from 2006 to 2013,including Xp11.2 translocation renal cell carcinoma (n =10),renal clear cell carcinoma (n =10) and renal papillary cell carcinoma (n =10).FISH was conducted for paraffin-embedded tumor tissue sections with probes.The types of fluorescence were observed by fluorescent microscopy to determine the existence or non-existence of translocated TFE3 gene.Results All sections were successfully probed.The split red and green signals within a single nucleus were detected simultaneously in 9 cases of Xp11.2 translocation renal cell carcinoma as diagnosed by traditional pathological and immunohistochemical methods.And it was consistent with the initial diagnosis.Detection of fusion signal in 1/10 and negative FISH result did not conform to the initial diagnosis.The fluorescent types of renal clear cell carcinoma and renal papillary cell carcinoma were all fusion signals.FISH tests were negative for renal clear and papillary cell carcinomas.Conclusions Xp11.2 translocation renal cell carcinomas diagnosed by traditional pathological and immunohistochemical methods are sometimes misdiagnosed.Detecting the translocation of TFE3 gene with FISH polyclonal break-apart probes is both accurate and reliable for diagnosing Xp11.2 translocation renal cell carcinoma.