Sažetak
Uvod. Li-Fraumenijev sindrom (LFS) predstavlja veoma retko familijarno obolenje sa predispozicijom za razvoj pojedinih malignih tumora, kao što su: osteosarkom, karcinom dojke, neoplazma mozga, leukemija i adrenalni tumori Nasleđuje se autozomno dominantno, a nastaje usled heterozigotne mutacije na genu p53. Dijagnoza se postavlja na osnovu kliničkih kriterijuma: osoba mlađa od 45 godina obolela od sarkoma, najbliži srodnik mlađi od 45 godina oboleo od karcinoma i srodnik prvog ili drugog kolena koji je do 45. godine oboleo od karcinoma ili oboleo od sarkoma u bilo kom uzrastu. Prikaz bolesnika. U radu je prikazana porodica u kojoj su kod tri ćlana dijagnostikovana maligna obolenja karakteristična za LFS. Muškarac star 24 godine oboleo i lečen od osteosarkoma gornje vilice preminuo je u toku prve godine. Njegov mlađi brat je 3 godine kasnije operisan od osteosarkoma donje vilice, a godinu dana kasnije u svojoj 24 godini bio je bez znakova lokoregionalnog recidiva. Njihova majka je 1996. godine operisana od multiformnog glioblastoma mozga i duktalnog karcinoma dojke. Umrla je dve godine kasnije u 33. godini života. Zaključak. Ovaj prikaz ukazuje na potrebu pažljivog pregleda, kontrolisanja i obaveštavanja o rizicima članova porodice obolelih od tumora koji su u vezi sa LFS.
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Reference
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