Li-Fraumeni syndrome – a case report

Sanja Šarac; Željko  Krsmanović; Rade Milić; Tatjana  Radević; Biljana  Lazović-Popović; Mira Vasiljević; Momir Šarac

doi:10.2298/VSP211102036S

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

DOI: https://doi.org/10.2298/VSP211102036S

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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