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通过荧光原位杂交检测肾细胞癌中表皮生长因子受体基因拷贝数变化

EGF-r gene copy number changes in renal cell carcinoma detected by fluorescence in situ hybridization.

作者信息

Moch H, Sauter G, Gasser T C, Bubendorf L, Richter J, Presti J C, Waldman F M, Mihatsch M J

机构信息

Institute of Pathology, University of Basel, Switzerland.

出版信息

J Pathol. 1998 Apr;184(4):424-9. doi: 10.1002/(SICI)1096-9896(199804)184:4<424::AID-PATH1223>3.0.CO;2-A.

Abstract

Expression of epidermal growth factor receptor (EGF-r) is a frequent event in renal cell carcinoma (RCC). To investigate the role of EGF-r gene copy number changes related to EGF-r overexpression, 50 RCC specimens were examined by fluorescence in situ hybridization (FISH) and immunohistochemistry. Dual-labelling FISH with a repetitive pericentromeric probe for chromosome 7 and a probe for the EGF-r gene (at 7p13) was performed to analyse the EGF-r copy number in relation to chromosome 7 copy number on a cell-by-cell basis. Polysomy 7 was frequent in all histological types of RCC. Chromosome 7 polysomy was found in 26 of 35 clear cell (74 per cent), nine of nine papillary, and three of three chromophobe RCCs. EGF-r gene copy number was closely associated with the chromosome 7 copy number on a cell-by-cell basis. No EGF-r gene amplifications were found. EGF-r positivity was found in 37 of 50 cases (74 per cent) by immunohistochemistry. EGF-r positivity was more common in clear cell (81 per cent) than in papillary tumours (40 per cent; P = 0.029). Neither chromosome 7 nor EGF-r gene copy number was associated with EGF-r expression, indicating that an increased gene dosage is not a mechanism of EGF-r overexpression in RCC.

摘要

表皮生长因子受体(EGF-r)的表达在肾细胞癌(RCC)中是常见现象。为了研究与EGF-r过表达相关的EGF-r基因拷贝数变化的作用,采用荧光原位杂交(FISH)和免疫组织化学方法检测了50例RCC标本。使用针对7号染色体的着丝粒重复探针和针对EGF-r基因(位于7p13)的探针进行双标记FISH,以便在逐个细胞的基础上分析EGF-r拷贝数与7号染色体拷贝数的关系。7号染色体多体性在所有组织学类型的RCC中均常见。在35例透明细胞RCC中有26例(74%)、9例乳头状RCC中的9例以及3例嫌色细胞RCC中的3例发现了7号染色体多体性。在逐个细胞的基础上,EGF-r基因拷贝数与7号染色体拷贝数密切相关。未发现EGF-r基因扩增。通过免疫组织化学在50例病例中的37例(74%)发现了EGF-r阳性。EGF-r阳性在透明细胞RCC中(81%)比在乳头状肿瘤中(40%;P = 0.029)更常见。7号染色体和EGF-r基因拷贝数均与EGF-r表达无关,这表明基因剂量增加不是RCC中EGF-r过表达的机制。

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