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Prognostic significance of nucleophosmin mutations in pediatric acute leukemia

dc.contributor.advisorČolović, Milica
dc.contributor.otherJanković, Gradimir
dc.contributor.otherVujić, Dragana
dc.contributor.otherPavlović, Sonja
dc.creatorKuzmanović, Miloš B.
dc.date.accessioned2016-01-05T12:05:49Z
dc.date.available2016-01-05T12:05:49Z
dc.date.available2020-07-03T08:51:18Z
dc.date.issued2013-04-04
dc.identifier.urihttp://eteze.bg.ac.rs/application/showtheses?thesesId=726
dc.identifier.urihttp://nardus.mpn.gov.rs/handle/123456789/2390
dc.identifier.urihttps://fedorabg.bg.ac.rs/fedora/get/o:6996/bdef:Content/download
dc.identifier.urihttp://vbs.rs/scripts/cobiss?command=DISPLAY&base=70036&RID=44670223
dc.description.abstractCilj rada: Ispitivana je učestalost mutacija u genu za nukleofosmin i FLT3 u populaciji pedijatrijskih i odraslih bolesnika sa de novo akutnom mijeloidnom leukemijom (AML). Određivan je njihv prognostički značaj, kao i povezanost sa drugim demografskim i laboratorijskim parametrima. Materijal i metode: Ispitivanje je sprovedeno na uzorcima 42 pedijatrijska i 92 odrasla bolesnika obeleih od de novo AML. Mutacije u genu za nukleofosmin su odreñivane lančanim umnožavanjem DNK a zatim sekvencioniranjem dobijenog produkta; mutacije FLT3 određivane su metodom PCR. Rezultati: Mutacije u genu za nukleofosmin nañene su u 1/37 (2,7%) pedijatrijskih bolesnika; mutacija je bila tipa Q. U grupi odraslih bolesnika mutacije u genu za nukleofosmin nañene su kod 13/92 bolesnika (14,1%). Mutacije FLT3 u pedijatrijskih bolesnika nañene su kod 4/42 bolesnika (9,5%); u odraslih bolesnika mutacije FLT3 nañene su u 25/92 (27,1%) bolesnika. Zaključak: Učestalost ispitivanih molekularno genetičkih markera kod bolesnika u ispitivanim grupama je u skladu sa podacima iz literature. U obe grupe bolesnika mutacije u genu FLT3 ITD bile su povezane sa nepovoljnom prognozom, a u odraslih bolesnika isti rezultat je dobijen i u grupi bolesnika sa mutacijama u genu za nukleofosmin.sr
dc.description.abstractAim of the study: We investigated incidence and prognostic significance of mutated nucleophosmin and FLT3 genes in pediatric and adult patients with de novo acute myeloid leukemia. Also, prognostic impact of demographic and other laboratory data was investigated. Material and methods: Investigation was conducted on 42 pediatric patients and 92 adult patients with acute myeloid leukemia (AML). Mutations in gene for nucleophosmin was detetcted through sequencing and FLT3 gene mutation were detetcted on PCR. Results: Mutated nucleophosmin was found in 1/37 (2,7%) pediatric patients; it was a Q type mutation. In a group of adult patients mutated nucleophosmin was found in a 13/92 (14,1%) of patients. Mutations FLT3 in pediatric patients were found in 4/42 (9,5%); in a group of adult patients mutations FLT3 were found in 25/92 (27,1%) patients. Conclusion: Incidence of mutated nucleophosmin and FLT3s was in the range of previuosly published data. In both pediatric and adult patients AML with FLT3 ITD mutations had inferior outcome. In a group of adult patients mutated nucleophosmin was also a predictor of poor outcome.en
dc.formatapplication/pdf
dc.languagesr
dc.publisherУниверзитет у Београду, Медицински факултетsr
dc.rightsopenAccessen
dc.sourceУниверзитет у Београдуsr
dc.subjectAMLsr
dc.subjectAMLen
dc.subjectFLT3en
dc.subjectNPM1en
dc.subjectoutcomeen
dc.subjectFLT3sr
dc.subjectNPM1sr
dc.subjectprognostički značajsr
dc.titlePrognostički značaj mutacija gena za nukleofosmin u akutnim leukemijama u decesr
dc.titlePrognostic significance of nucleophosmin mutations in pediatric acute leukemiaen
dc.typedoctoralThesisen
dc.rights.licenseBY
dcterms.abstractЧоловић, Милица; Јанковић, Градимир; Павловић, Соња; Вујић, Драгана; Кузмановић, Милош Б.; Прогностички значај мутација гена за нуклеофосмин у акутним леукемијама у деце; Прогностички значај мутација гена за нуклеофосмин у акутним леукемијама у деце;
dc.identifier.fulltexthttp://nardus.mpn.gov.rs/bitstream/id/10190/Disertacija.pdf
dc.identifier.doi10.2298/bg20130404kuzmanovic
dc.identifier.rcubhttps://hdl.handle.net/21.15107/rcub_nardus_2390


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