[Somatic mutations of VHL gene and HIF-1alpha expression in primary renal clear cell carcinomas].
OBJECTIVE
To evaluate the significance of somatic mutations of VHL gene and hypoxia-inducible factor-1alpha (HIF-1alpha) expression in primary renal clear cell carcinoma (RCC).


METHODS
Mutation of VHL gene and HIF-1alpha expression were detected by means of PCR, denaturing high-performance liquid chromatography (DHPLC), direct sequencing and immunohistochemistry in 32 samples from primary renal clear cell carcinoma patients.


RESULTS
In 32 RCC samples, 17 samples (53.1%) had and 32 samples of adjacent nonmalignant renal tissue had not mutations of VHL gene expression. Twelve RCC samples (70.6%) which had mutations of VHL gene expressed HIF-1alpha, and it had significant difference to 4 RCC (26.7%) samples which didn't have mutations of VHL gene (P < 0.05).


CONCLUSIONS
Mutations of VHL gene may play a significant role in the tumorigenesis of RCC, and HIF-1alpha expression correlates with it.
Guo
Hong-feng
HF
Department of Urology, First Hospital of Peking University, Beijing 100034, China.
Gong
Kan
K
Zou
Shuang-mei
SM
Zhang
Zhi-wen
ZW
Liu
Xiu-yun
XY
Na
Xi
X
Wu
Guan
G
Na
Yan-qun
YQ
D018262:Adenocarcinoma, Clear Cell / Q000235:genetics* / Q000473:pathology; D000328:Adult; D000368:Aged; D002292:Carcinoma, Renal Cell / Q000235:genetics* / Q000473:pathology; D002853:Chromatography, Liquid; D005260:Female; D015972:Gene Expression Regulation, Neoplastic; D006801:Humans; D051795:Hypoxia-Inducible Factor 1, alpha Subunit; D007150:Immunohistochemistry; D007668:Kidney / Q000737:chemistry / Q000378:metabolism / Q000473:pathology; D007680:Kidney Neoplasms / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction; D014157:Transcription Factors / Q000032:analysis / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000032:analysis / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases / Q000032:analysis / Q000235:genetics*; D051794:Von Hippel-Lindau Tumor Suppressor Protein
C497442:HIF1A protein, human; D051795:Hypoxia-Inducible Factor 1, alpha Subunit; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human