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    Status of IKZF1 deletions in diagnose and relapsed pediatric B-ALL patients
    (Springer, 2025) Erbilgin, Yücel; Fırtına, Sinem; Kırat, Elif; Khodzhaev, Khusan; Karakaş, Zeynep; Ünüvar, Ayşegül; Ocak, Süheyla; Celkan, Tülin Tiraje; Zengin, Emine; Aylan Gelen, Sema; Yıldırmak, Zeynep Yıldız; Toluk, Özlem; Hatırnaz Ng, Özden; Özbek, Uğur; Sayitoğlu, Müge
    IKZF1 deletions (Delta IKZF1) are common in precursor B-cell acute lymphoblastic leukemia (B-ALL) and are assumed to have a prognostic impact. We aimed to determine the prognostic implications of Delta IKZF1 and CRLF2 overexpression in pediatric B-ALL. Furthermore, we sought to compare the multiplex polymerase chain reaction (PCR) assay with standard multiplex ligand-dependent probe amplification (MLPA) methods to ascertain IKZF1 status in a clinical context. Seventy-nine diagnoses and 43 relapse B-ALL samples were evaluated for deletions of IKZF1 Delta 2-7, Delta 4-7, and Delta 4-8 by conventional PCR and then sequenced by targeted sequencing. Subsequently, MLPA analysis was performed for Delta IKZF1 detection, and CRLF2 expression was evaluated in 42 diagnose time B-ALL patients by QRT-PCR. Delta IKZF1 was detected in 10 out of 79 diagnose samples (12.66%) and eight of the 43 first relapsed materials (18.60%). Our results revealed no association between survival outcomes with Delta IKZF1 or CRLF2 overexpression status in pediatric B-ALL patients. However, we found Delta IKZF1 was more frequent among relapsed samples, and the deletions showed consistency between diagnose-first/second relapse pairs of samples. These results suggest that Delta IKZF1 may contribute to the development of treatment failure in B-ALL. Furthermore, we demonstrated methodological adjustments in conventional PCR and MLPA for selected alterations in Delta IKZF1.
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    Zinc finger protein 384 ( ZNF384) impact on childhood mixed phenotype acute leukemia and B-cell precursor acute lymphoblastic leukemia
    (Taylor and Francis, 2022) Sudutan, Tuğce; Erbilgin, Yücel; Hatırnaz, Özden; Karaman, Serap; Karakaş, Zeynep; Küçükcankurt, Fulya; Celkan, Tülin Tiraje; Timur, Çetin; Özdemir, Gül Nihal; Hacısalihoglu, Sadan; Aylan Gelen, Sema; Sayitoğlu, Müge
    B-cell precursor acute lymphoblastic leukemia (BCP-ALL) is a heterogeneous malignancy and consists of several genetic abnormalities. Some of these abnormalities are used in clinics for risk calculation and treatment decisions. Patients with ZNF384 rearrangements had a distinct expression profile regardless of their diagnosis, BCP-ALL or mixed phenotype acute leukemia (MPAL) and defined as a new subtype of ALL. In this study, we screened 42 MPAL and 91 BCP-ALL patients for the most common ZNF384 fusions; ZNF384::TCF3, ZNF384::EP300 and ZNF384::TAF15 by using PCR. We identified ZNF384 fusions in 9.5% of MPAL and 7.6% of BCP-ALL. A novel breakpoint was identified in ZNF384::TCF3 fusion in one BCP-ALL patient. T-myeloid MPAL patients showed significantly lower ZNF384 expression compared to lymphoid groups. Patients with ZNF384r had intermediate survival rates based on other subtypes. Prognostic and patient-specific treatment evaluation of ZNF384 fusions in both ALL and MPAL might help to improve risk characterization of patients.