Nagashima Y, Miyagi Y, Udagawa K, Taki A, Misugi K, Sakai N, Kondo K, Kaneko S, Yao M, Shuin T
Department of Pathology, Yokohama City University School of Medicine, Japan.
J Pathol. 1996 Nov;180(3):271-4. doi: 10.1002/(SICI)1096-9896(199611)180:3<271::AID-PATH664>3.0.CO;2-2.
Inactivation of the von Hippel-Lindau (VHL) tumour suppressor gene is responsible not only for VHL disease, but also for sporadic renal cell carcinoma and cerebellar haemangioblastoma. The distribution of VHL gene expression in the mouse embryo was recently studied by in situ hybridization, along with human VHL in 14-week-old fetal kidney: there was widely distributed expression in the former and expression in the tubules and blastema in the latter. Adult human tissue and other fetal organs were not examined. The present paper describes an in situ hybridization study to assess the function of the VHL gene in adult human tissues and in tissues of human fetus at 28 weeks of gestation. The expression of the VHL gene was limited to the adult and fetal brain and kidney, and the adult prostate. Nerve cells in adult and fetal brain were positive, including the cerebellar Purkinje cells. In adult and fetal kidney, the proximal tubular epithelium, the putative origin of the common type of renal cell carcinoma, showed intense signal, whereas the distal nephron, glomeruli, and nephrogenic blastema showed no significant signal. The prostate showed significant signal in the basal epithelium. The adrenal, pancreas, and epidydimis showed no significant signal, in spite of the frequent occurrence at these sites of neoplastic or hamartomatous lesions in VHL disease.
冯·希佩尔-林道（VHL）肿瘤抑制基因的失活不仅是VHL病的病因，也是散发性肾细胞癌和小脑成血管细胞瘤的病因。最近通过原位杂交研究了VHL基因在小鼠胚胎中的表达分布，并研究了其在14周龄胎儿肾脏中的人类VHL基因表达情况：前者中该基因广泛表达，后者中该基因在肾小管和胚基中表达。未对成人组织和其他胎儿器官进行检测。本文描述了一项原位杂交研究，以评估VHL基因在成人组织和妊娠28周时人类胎儿组织中的功能。VHL基因的表达仅限于成人和胎儿的脑、肾以及成人前列腺。成人和胎儿脑中的神经细胞呈阳性，包括小脑浦肯野细胞。在成人和胎儿肾脏中，常见类型肾细胞癌的假定起源部位近端肾小管上皮显示出强烈信号，而远端肾单位、肾小球和肾胚基未显示明显信号。前列腺的基底上皮显示出明显信号。肾上腺、胰腺和附睾未显示明显信号，尽管在VHL病中这些部位经常发生肿瘤性或错构瘤性病变。
