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Vojnosanitetski pregled
2020, vol. 77, br. 5, str. 516-524
jezik rada: engleski
vrsta rada: izvorni naučni članak
objavljeno: 15/06/2020
doi: 10.2298/VSP171129117D
Creative Commons License 4.0
Značaj citogenetički rizičnih kategorija i prerađenog Međunarodnog prognoznog sistema za procenu ukupnog preživljavanja u primarnoj mijelofibrozi - iskustvo jednog centra
aKlinički centar Srbije, Klinika za hematologiju, Beograd
bUniverzitet u Beogradu, Medicinski fakultet + Univerzitet u Beogradu, Medicinski fakultet, Institut za medicinsku statistiku i informatiku
cKlinički centar Srbije, Klinika za hematologiju, Beograd + Univerzitet u Beogradu, Medicinski fakultet

e-adresa: djvesna.kcs@gmail.com

Projekat

Retke bolesti: molekularna patofiziologija, dijagnostički i terapijski modaliteti i socijalni, etički i pravni aspekti (MPNTR - 41004)

Sažetak

Uvod/Cilj. Primarna mijelofibroza (PMF) je hronična, maligna hematološka bolest koja se karakteriše leukoeritroblastnom krvnom slikom, anizopoikilocitozom eritrocita u obliku suze, različitim stepenom fibroze kostne srži i hepatosplenomegalijom usled ekstramedularne hematopoeze. Od genetičkih specifičnosti bolesti, ističu se hromozomske aberacije u patološkim, mijeloidnim ćelijama krvi. Cilj rada bio je da se ispita prognostički značaj kliničkih, hematoloških i citogenetičkih parametara u PMF. Metode. Retrospektivnom studijom su bila obuhvaćena 144 bolesnika sa PMF. Analiza kariotipa vršena je konvencionalnom citogenetičkom metodom. Rezultati. Hromozomska analiza je bila uspešna kod 126 (88%) bolesnika, a neuspešna kod ostalih bolesnika (12%). Aberantan kariotip je bio registrovan kod 36/126 (29%) ispitanika na prezentaciji. Najčešće aberacije bile su: +9, 13qi 20q(28%). Druge abnormalnosti bile su: aberacije hromozoma 18 i 16, delecije (9q-, 12p-,7q-, 5q-, 6q-, 8q-), trizomije (+1q, +8, +10, +21), monozomije (-7, -11), inverzija 3q i gubitak Y hromozoma. Otkrili smo i četri nove balansirane translokacije u PMF: t(17;22)(q11;q13), t(15;17)(q22;q25), t(9;12)(q22;q24) i t(2;4)(q21;p16), jednu konstitucionu translokaciju ˗ rob(13;14)(q10;q10) i neke nove anomalije kariotipa ˗ delecija oba, homologa hromozoma, hiperdiploidiju i koegzistenciju nepovezanih patoloških klonova. Zaključak. Prema citogenetički prerađenom Međunarodnom prognoznom sistemu hromozomske aberacije su statistički značajno (p = 0.004) uticale na ukupno preživljavanje bolesnika sa PMF. Kod naših bolesnika nađene su hromozomske aberacije uobičajene za PMF, ali su registrovane i nove balansirane translokacije, kao i druge, retke kariotipske anomalije.

Ključne reči

hromozomi, aberacije; citogenetika; mijelofibroza, primarna; prognoza

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