Tom 7, Nr 1 (2022)
Artykuł przeglądowy
Opublikowany online: 2022-02-10
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Fakomatozy – znaczenie badań genetycznych dla personalizacji postępowania klinicznego (część 2)
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Biuletyn Polskiego Towarzystwa Onkologicznego Nowotwory 2022;7(1):58-65.
Streszczenie
Choroba von Hippla i Lindaua (VHL) oraz stwardnienie guzowate są rzadko występującymi schorzeniami uwarunkowanymi genetycznie, należącymi do grupy fakomatoz. W ich przebiegu występuje zwiększone ryzyko rozwoju mnogich nowotworów, głównie o charakterze łagodnym, które mogą ulegać transformacji do formy złośliwej. Diagnostyka genetyczna obejmująca identyfikację wariantu patogennego genów VHL i TSC1 oraz TSC2 umożliwia optymalizację opieki nad pacjentami oraz typowanie krewnych obciążonych mutacją.
Słowa kluczowe: choroba von Hippla i LindauaVHLstwardnienie guzowatesclerosis tuberosa complexTSCfakomatozy
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