Klin Onkol 2006; 19(6): 290-292.
Summary
Primary mutation in a single somatic cell is the reason of tumor formation in a majority of malignancies. The malignant cells undergo three stages of development: initial stage, stage of promotion, and stage of progression. Mutation of a certain gene results in a loss or in formation of a mutated product, which cause deregulation in the process of cell proliferation, differentiation, and apoptosis. Von Hippel-Landau disease is an autosomal dominant disorder conditioned by mutation of a tumor-srppressor gene located on chromosome 3p25-26. Failure in the degradation of HIFs and increase of transcription VEGF (vascular endothelial growth factor), PDGF (plateletderived growth factor-α), and TGF (transforming growth factor-α), are main reasons for accelerated growth in renal cell carcinoma, hemangioblastoma, and other VHL-related tumors. We review recent observations in the field of VHL disease pathogenesis.
