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Abstract [Full-Text PDF] [Macedonian Abstract] [OnlineFirst Full-Text PDF]
Macedonian Journal of Medical Sciences. 2008 Dec 15; 1(2):17-24. doi:10.3889/MJMS.1857-5773.2008.0016 Basic Science
Telomerase Activity and MDS/EVI Gene Fusion in Myelodysplastic Syndrome. Correlation to the Immunohistochemical Expression of Ki-67, Bcl-2 and p53 in Bone Marrow Biopsy Samples
Rubens Jovanovik1, Vesna Janevska1, Lidija Cevreska2, Zlate Stojanoski2, Milka Zdravkovska3, Gordana Petrushevska1 1Institute for Pathology; 2Hematology Clinic; 3Institute of Epidemiology and Biostatistics, Faculty of Medicine, University "Ss Kiril and Metodij", Skopje, Republic of Macedonia
Background. Myelodysplastic syndrome (MDS) as a complex disorder comprised of 7 entities may arise as a primary disorder, or in a setting of an underlying disease, or as therapy related (secondary MDS). Some cases show MDS/EVI1 gene fusion, and some studies have pinpointed the association between the high-risk MDS and increased telomerase activity. Aim. To determine the frequency of MDS/EVI1 gene fusion in cases of primary MDS, and to evaluate the possibility for detection of increased telomerase activity in peripheral blood samples from patients with MDS. Material and methods. We isolated DNA from 35 bone marrow biopsies, and measured the blood telomerase activity (RTA) in 21 of the patients. We performed immunostainigs for Ki-67, Bcl-2 and p53 on the biopsy samples in order to test the correlations to the RTA and MDS/EVI1 presence. MDS/EVI1 fusion was detected with touch-down-direct PCR, and RTA was measured using the "TeloTAGGG-PCR-ELISA-plus kit". Results. We found MDS/EVI1 fusion in 17,39% of high-risk MDS cases (overall 11,43%). RTA was highly variable in the analyzed group, with 1,8 fold increase of the mean RTA compared to the controls. It was due to the significant RTA increase in high-risk MDS cases, compared to the low-risk cases (p<0,01). Conclusion. RTA showed correlation to the immunohistochemical expression of Ki-67, and MDS/EVI1 fusion was correlated to the Bcl-2 expression.
Key words: MDS/EVI1; gene fusion; telomerase; immunostaining; Ki-67; Bcl-2; p53.
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