[Frequent somatic mutations of the von Hippel-Lindau (VHL) tumor suppressor gene and its meaning in sporadic human renal clear cell carcinoma]

Abstract

Objective: To investigate the mutation of VHL gene, an important tumor suppressor gene in primary sporadic human renal cell carcinoma (RCC) and analyse its relationships with pathological stage and grade of renal cell carcinoma.

Methods: We analyzed 57 cases of primary sporadic Chinese renal clear carcinoma using the polymerase chain reaction (PCR) and denaturing high performance liquid chromatography(DHPLC). All positive cases in DHPLC analysis were further characterized by direct sequencing.

Results: Somatic mutations were detected in 30 (53%) of 57 clear cell renal carcinomas including 13 deletions, 2 insertions, and 15 missense mutations. These mutations mainly occurred in the last one-third region of exon 1, 2,and 3.

Conclusion: VHL tumor suppressor gene is one of the major tumor suppressor genes in human renal cell carcinoma and there are frequent mutations of VHL in primary sporadic Chinese renal clear cell carcinomas. The mutations of VHL gene were irrespective of the age and pathological grade and stage of patients.