Varley J M, Armour J, Swallow J E, Jeffreys A J, Ponder B A, T'Ang A, Fung Y K, Brammar W J, Walker R A
ICI/University Joint Laboratory, University of Leicester.
Oncogene. 1989 Jun;4(6):725-9.
We have analysed the organisation of the retinoblastoma (RB1) gene in 77 primary breast carcinomas, in metastatic tissue derived from 16 of those primary tumours, and in a variety of benign breast lesions. Expression of RB1 was also assessed in most samples by immunohistochemical detection of the RB1 protein in tissue sections. Structural abnormalities to RB1 were detected in DNA from 15/77 (19%) of primary breast carcinomas examined. Where DNA was available from metastatic tissue derived from such primary tumours, the same aberration could be detected. No alterations were seen in benign breast lesions. 16/56 (29%) of tumours examined for expression by immunohistochemical methods showed a proportion of tumour cells to be completely negative for the RB1 protein. All tumours in which a structural alteration to RB1 was detected had a proportion of negative cells, except for one case where all cells were positive. Several primary tumour samples were identified where there was no detectable structural change to the gene, but there was loss of expression in some tumour cells. The data presented here demonstrate that changes to the RB1 gene leading to loss of expression of both alleles are frequent in primary human breast tumours.
我们分析了77例原发性乳腺癌、其中16例原发性肿瘤的转移组织以及多种乳腺良性病变中视网膜母细胞瘤（RB1）基因的组织情况。还通过免疫组织化学检测组织切片中的RB1蛋白，对大多数样本中的RB1表达进行了评估。在所检测的77例原发性乳腺癌中，有15例（19%）的DNA检测到RB1结构异常。若有来自此类原发性肿瘤的转移组织的DNA，可检测到相同的畸变。乳腺良性病变未见改变。通过免疫组织化学方法检测表达的肿瘤中，16/56（29%）显示部分肿瘤细胞的RB1蛋白完全阴性。除1例所有细胞均为阳性外，所有检测到RB1结构改变的肿瘤均有一定比例的阴性细胞。有几个原发性肿瘤样本未检测到该基因的结构变化，但部分肿瘤细胞存在表达缺失。本文数据表明，导致两个等位基因表达缺失的RB1基因改变在原发性人类乳腺肿瘤中很常见。
