Browsing by Author "Eskazan, Ahmet Emre"

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    Copy-number variations in adult patients with chronic immune thrombocytopenia
    (TAYLOR \& FRANCIS LTD, 2020-01-01) Yucesan, Emrah; Ng, Ozden Hatirnaz; Yalniz, Fevzi Firat; Yilmaz, Hulya; Salihoglu, Ayse; Sudutan, Tugce; Eskazan, Ahmet Emre; Ongoren, Seniz; Baslar, Zafer; Soysal, Teoman; Ozbek, Ugur; Sayitoglu, Muge; Ar, M. Cem
    Objectives Immune thrombocytopenia (ITP) is an autoimmune disease with heterogeneous background. FCGR2C mutations were defined in one third of the patients but genetic players have not been fully elucidated yet. Although childhood ITP present as benign, ITP in adulthood is chronic disease with treatment challenges. This study aimed to focus on adult ITP patients using a whole genome genotyping that is valuable approach to identify the responsible genomic regions for the disease. Methods Herein 24 adult primary-refractory for ITP patients were evaluated using HumanCytoSNP12BeadChip,Illumina. Forty-six age and sex matched healthy individuals, and ptients awith nonhematological conditions were analyzed as controls. Identified CNV regions were verified by qRTPCR. T-cell receptor beta and delta (TCRB/TCRG) clonality were assessed by heteroduplex analysis in mosaic cases. Results Several CNV losses and gains were defined (losses:2q,7q,17q,19p, and gains: 1q,2p,3q,4q,7q,10q,12p,13q,14q,15q,17p,20q,21p,22q,Xp). Mosaic changes of different sizes (0.2-17.77Mb) were identified in five patients and three of them showed clonality. CNV regions that were unique to ITP patients were identified for the first time and among these genes, those related to immune regulation, and cellular trafficking were noteworthy. Conclusion: Identified CNV regions harbor several candidate genes, the functions of which might shed light on the pathogenesis of chronic ITP.
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    The Impact and Prognostic Significance of Chronic Lymphocytic Leukemia Upregulated 1 (CLLU1) Gene Expression in Patients with Chronic Lymphocytic Leukemia: A Single Center Experience
    (OXFORD UNIV PRESS, 2020-01-01) Sevinc, Mustafa; Karabulut, Aydin; Eskazan, Ahmet Emre; Tatonyan, Suzin Catal; Ozbek, Ugur; Soysal, Teoman
    Objectives: To determine CLLU1 gene levels and the relationship of that gene among other prognostic parameters in patients with chronic lymphocytic leukemia. Methods: Bone-marrow infiltration pattern, beta 2-microglobulin (beta(2)-M), cluster of differentiation (CD)38, and ZAP-70 status were recorded. CLLU1 levels were assessed by real-time polymerase chain reaction (RT-PCR) and expressed as folds. The relationship between CLLU1 and other known prognostic parameters was evaluated. Results: CLLU1 expression was positive in 81 patients and negative in 3 patients. The median (interquartile range {[}IQR]) CLLU1 level was 6.45 folds (3.75-16.57 folds) in patients with beta(2)-M normal values and 16.22 folds (3.91-62.00 folds) in patients with increased beta(2)-M (P = .15). Patients with a higher CD38 value than the median level had 3 times higher CLLU1 levels than the other group (P = .07). The median (IQR) CLLU1 level was 4.25 folds (2.75-13.71 folds) in patients with CLL who tested negative on ZAP-70, whereas it was 49.52 folds (15.06-446.36 folds) in those who tested positive via ZAP-70 (P = .005). Conclusions: CLLU1 is a specific parameter to CLL, and its level corresponds well with the ZAP-70 level.