Li-Fraumeni syndrome: A case report

Miroslav P. Ilić; Aleksandar Kiralj; Borislav Markov; Ivana Mijatov; Saša Mijatov; Nada Vučković

doi:10.2298/4286

Miroslav P. Ilić Clinic for Maxillofacial and Oral Surgery Clinical Centre of Vojvodina, Novi Sad, Serbia; Faculty of Medicine, University of Novi Sad, Novi Sad, Serbia
Aleksandar Kiralj Clinic for Maxillofacial and Oral Surgery Clinical Centre of Vojvodina, Novi Sad, Serbia; Faculty of Medicine, University of Novi Sad, Novi Sad, Serbia
Borislav Markov Clinic for Maxillofacial and Oral Surgery Clinical Centre of Vojvodina, Novi Sad, Serbia
Ivana Mijatov Clinic for Maxillofacial and Oral Surgery Clinical Centre of Vojvodina, Novi Sad, Serbia; Faculty of Medicine, University of Novi Sad, Novi Sad, Serbia
Saša Mijatov Clinic for Maxillofacial and Oral Surgery Clinical Centre of Vojvodina, Novi Sad, Serbia; Faculty of Medicine, University of Novi Sad, Novi Sad, Serbia
Nada Vučković Clinic for Maxillofacial and Oral Surgery Clinical Centre of Vojvodina, Novi Sad, Serbia; Faculty of Medicine, University of Novi Sad, Novi Sad, Serbia

DOI: https://doi.org/10.2298/4286

Ključne reči: li-fraumeni syndrome||, ||li-fraumeni sindrom, diagnosis||, ||diagnosis, treatment outcome||, ||lečenje, ishod, prognosis||, ||prognoza,

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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