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Hemangioblastomas that form in Hippel-Lindau disease are benign tumors arising from hemangioblasts. Hemangioblasts are embryonic cells that can later become precursors of blood cells and cells of the inner lining of blood vessels. Hemangioblastomas of the eye grow from components of the neurosensory retina and optic disc. The abnormal growth is caused by a mutation in the antitumor gene VHL, which is located on the short arm of chromosome 3 (locus 3p25-26). Since the process takes place at the level of genetic material, the disease affects the entire body.
Cells with a defective pVHL protein cannot suppress their growth, they have a reduced ability to differentiate, that is, to acquire certain properties and turn into other cell types. One of the functions of the pVHL protein is the destruction of the transcription factors HIF1a and HIF2a. These factors are produced under conditions of oxygen starvation (hypoxia), and with increased activity they are involved in the development of oncological diseases.
Newly formed vessels are highly permeable. This results in leakage of the plasma ultrafiltrate into the surrounding tissues, causing edema and cyst development. Classification and stages of development of Hippel's disease — Lindau.