Li-Fraumenijev sindrom

  • Sanja Šarac Military Medical Academy, Clinic for Pulmonology, Belgrade, Serbia
  • Željko Krsmanović Military Medical Academy, Clinic for Neurology, Belgrade, Serbia
  • Rade Milić Military Medical Academy, Clinic for Pulmonology, Belgrade, Serbia
  • Tatjana Radević University of Defence, Faculty of Medicine of the Military Medical Academy, Belgrade, Serbia
  • Biljana Lazović-Popović University Clinical Hospital Center “Zemun”, Belgrade, Serbia
  • Mira Vasiljević Military Medical Academy, Clinic for Pulmonology, Belgrade, Serbia
  • Momir Šarac University of Defence, Faculty of Medicine of the Military Medical Academy, Belgrade, Serbia
Ključne reči: dijagnoza, porodica, genetičke bolesti, urođene, li-fraumeni sindrom, mutacija, srbija

Sažetak


Uvod. Li-Fraumenijev sindrom (LFS) je nasledna porodična predispozicija za širok spektar određenih, često retkih malignih bolesti. Bolesnici, takođe, imaju povećan rizik od razvoja sekundarnih, pa čak i tercijarnih malignih bolesti tokom čitavog života. Najčešći su sarkomi mekih tkiva i kostiju, karcinom dojke, tumori mozga, adrenokortikalni karcinom i akutna leukemija. Sindrom se nasleđuje kao autozomno dominantni poremećaj. U većini porodica sa LFS, identifikovane su heterozigotne mutacije na genu TP53. Po našem saznanju, ovo je drugi prikaz LFS u Srbiji. Prikaz bolesnika. Prikazujemo porodicu u kojoj su kod pet članova  dijagnostikovane maligne bolesti tipične za LFS. Žena u 21. godini života lečena je zbog rekurentnog astrocitoma i medijastinalnog liposarkoma. Njena starija sestra imala je rabdomiosarkom i karcinom jetre i umrla je u 18. godini. Majci njihovog oca dijagnostikovan je karcinom dojke u 45. godini, a umrla je u 52. godini života. Očeva sestra imala je osteosarkom i umrla je pre 40. godine života. Njihovom ocu dijagnostikovan je adenokarcinom pluća u životnom dobu od 49 godina, dve godine nakon smrti druge ćerke. Genetičkom  analizom otkrivena je heterozigotna mutacija gena TP53. On takođe ima i treću,  osmogodišnju ćerku za koju nije odobrio genetičko testiranje. Zaključak. Kod bolesnika sa retkim i višestrukim malignim bolestima, kao i kod čestih i ranih maligniteta u porodici, potrebna je genetička analiza za LFS svih članova porodice. Ciljana provera prisustva ranih manifestacija malignih bolesti ključna je za otkrivanje LFS i produženo preživljavanje obolelih od ovog sindroma.

Biografija autora

Sanja Šarac, Military Medical Academy, Clinic for Pulmonology, Belgrade, Serbia

Klinika za pulmologiju

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Objavljeno
2023/05/03
Rubrika
Prikaz bolesnika