Tom 6, Nr 6 (2021)
Artykuł przeglądowy
Opublikowany online: 2021-12-07
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Fakomatozy – znaczenie badań genetycznych dla personalizacji postępowania klinicznego (część 1.)
1
, 1, 1, 2
, 1, 1, 2
Biuletyn Polskiego Towarzystwa Onkologicznego Nowotwory 2021;6(6):512-519.
Streszczenie
Genetycznie uwarunkowane zaburzenia rozwoju tkanek, które wywodzą się z ekto-, endo- i mezodermy i powstają na wczesnym etapie życia płodowego, zwane fakomatozami, stanowią liczną grupę schorzeń predysponujących do rozwoju nowotworów. Wczesna diagnostyka obejmująca identyfikację mutacji oraz ocenę kliniczną umożliwia objęcie pacjentów z potwierdzonym rozpoznaniem wielospecjalistyczną opieką. Dzięki temu można poprawić długoterminowe rokowanie oraz jakość życia chorych. Do najczęstszych fakomatoz należą: nerwiakowłókniakowatość typu 1 i 2 oraz schwannomatoza.
Słowa kluczowe: fakomatozyschorzenia nerwowo-skórnenerwiakowłókniakowatość 1nerwiakowłókniakowatość 2
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