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Srpski arhiv za celokupno lekarstvo
2015, vol. 143, br. 1-2, str. 63-67
jezik rada: engleski
vrsta rada: prikaz slučaja
doi:10.2298/SARH1502063D
Prikaz mladića s primarnim limfomom mozga čiji je brat umro od hemofagocitne limfohistiocitoze
aMedicinski fakultet, Beograd + Klinika za neurologiju, Klinički centar Srbije, Beograd
bMedicinski fakultet, Beograd + Klinika za hematologiju, Klinički centar Srbije, Beograd
cUniverzitet u Beogradu, Medicinski fakultet

e-adresa: dr.elidz@gmail.com

Projekat

Motorni i nemotorni simptomi parkinsonizma: kliničke, morfološke i molekularno-genetičke korelacije (MPNTR - 175090)

Sažetak

Uvod U radu je prikazana jedinstvena pojava primarnog limfoma centralnog nervnog sistema(PCNSL) kod bolesnika Čiji je brat umro od genetski potvrđene hemofagocitne limfohistiocitoze (HLH). Korišćene su metode kliničke dijagnostike. Prikaz bolesnika Dvadesetpetogodišnjem mladiću dijagnostikovan je primarni agresivni B-ćelijski limfom lokalizovan u mozgu i cervikalnoj kičmenoj moždini (PCNSL). Uprkos jednogodišnjem medikamentnom lečenju, ishod je bio letalan. Naš bolesnik je imao duži period preživljavanja u poređenju s medijanom za PCNSL. Dodatno, njegova dva starija brata su umrla u 11. godini. Prvi je umro od fulminantnog maligniteta nepoznate etiologije, dok je kod drugog uzrok smrti bila prethodno genetski dijagnostikovana HLH (perforin- mutacija - PRF1). Prikazani bolesnik je bio heterozigotni nosilac ove mutacije. Njegov otac je bio nosilac iste mutacije, ali bez ikakvih zdravstvenih problema. Zaključak Ovaj slučaj ukazuje na mogućnost pojave difuznog B-ćelijskog PCNSL i HLH među braćom. Zato je potrebno pažljivo kliničko ispitivanje bolesnika s pozitivnom porodičnom anamnezom za HLH i sumnjom na B-ćelijski PCNSL, uključujući i genetsku analizu za HLH.

Ključne reči

primarni agresivni B-ćelijski limfomcentralnog nervnog sistema; hemofagocitna limfohistiocitoza; perforin-mutacija

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