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VON HIPPEL-LINDAU TUMOUR SUPPRESSOR GENE. LOCALIZATION OF EXPRESSION BYIN SITU HYBRIDIZATION

✍ Scribed by NAGASHIMA, YOJI; MIYAGI, YOHEI; UDAGAWA, KAORI; TAKI, ATSUKO; MISUGI, KAZUAKI; SAKAI, NAOKI; KONDO, KEIICH; KANEKO, SHIGEKI; YAO, MASAHIRO; SHUIN, TARO

Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
460 KB
Volume
180
Category
Article
ISSN
0022-3417

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✦ Synopsis

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.

KEY WORDS-VOII Hippel-Lindau (VHL) gene; in sizu hybridization (ISH); renal cell carcinoma (RCC)

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