Naslov
Philadelphia negativne mijeloproliferativne neoplazme
(Philadelphia negative myeloproliferative neoplasms)

Autori
Planinc-Peraica, Ana ; Zatezalo, Viktor ; Geljic, A ; Mandac Rogulj, Inga ; Gredelj Simec, Njetočka ; Martinovic, Marko ; Kaic, Gordana ; Kardum Paro, Mirjana Mariana ; Kardum-Skelin, Ika ; Radic-Kristo, Delfa ; Ostojic Kolonic, Slobodanka

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Liječnički vjesnik / Planinc-Peraica, Ana ; Hecimovic, Ana - Zagreb : Printera Grupa, 2014, 116-116

Skup
6. Hrvatski kongres hematologa i transfuziologa, 5. samostalni stručni skup medicinskih sestara i tehničara s međunarodnim sudjelovanjem

Mjesto i datum
Rovinj, Hrvatska, 20.03.2014. - 23.03.2014

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Philadelphia negativne; mijeloproliferativne neoplazme
(Philadelphia negative; myeloproliferative neoplasms)

Sažetak
Objective: Chronic myeloid leukemia patients develop resistance to both first-generation and second-generation tyrosine kinase inhibitors (TKIs) as a result of mutations in the tyrosin kinase domain (TKD) of BCR-ABL1. More than 50 BCR-ABL1 KD mutations have been identified. Soverini et al. (2011. ; 2013.) reported that 12% to 63% CML patients experienced imatinib (IM) resistance because of BCR-ABL1mutations development.The most common mutations with imatinib are T315I, G250E, M244V, M351T, and E255K/V. Clinical resistance to nilotinib confer Y253H, E255K/V, and F359V/C/I, while V299L, T315A, and F317L/I/V/C mutations are associated with resistance to dasatinib. CML patients harboring T315I mutation are resistent to both first and second generation TKI.Aim: The purpose of this study was to investigate mutational status of 15 CML patients experienced imatinib resistence. Methods: RNA for subsequent analysis was isolated from patients peripheral blood. After transcription and amplification, BCR-ABL1 transcripts were sequenced according to Sanger sequencing method. Results: Fifteen (15) imatinib resistant CML patients were subjected to BCR- ABL1 mutation analysis. Mutations were detected in 6 patients (40%). Five different types of mutations were identified (T315I, G250E, Y253H, M244V and F359V), including 1 novel mutation N499S with yet unknown clinical significance. Five patients showed the presence of only one type mutations, while one patient in blast phase accumulated three different mutations. Very interesting finding was recorded in the group of 4 patients without mutations. They had 2 type of transcripts, b2a2+b3a2 indicating clonal imbalance and suggesting more adverse prognosis. Conclusion: Presence of mutations in different regions of BCR-ABL1 TKD leads to different levels of resistance and early detection of emerging mutant clones may help in decision making for alternative treatment.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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