Browsing by Author "Kucukcankurt, Fulya"

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    PTEN and AKT1 Variations in Childhood T-Cell Acute Lymphoblastic Leukemia
    (GALENOS YAYINCILIK, 2020-01-01) Kucukcankurt, Fulya; Erbilgin, Yucel; Firtina, Sinem; Ng, Ozden Hatirnaz; Karakas, Zeynep; Celkan, Tiraje; Unuvar, Aysegul; Ozbek, Ugur; Sayitoglu, Muge
    Objective: PTEN/AKT pathway deregulations have been reported to be associated with treatment response in acute leukemia. This study examined pediatric T-cell acute lymphoblastic leukemia (T-ALL) samples for PTEN and AKT1 gene variations and evaluated the clinical findings. Materials and Methods: Fifty diagnostic bone marrow samples of childhood T-ALL cases were investigated for the hotspot regions of the PTEN and AKT1 genes by targeted next-generation sequencing. Results: A total of five PTEN variations were found in three of the 50 T-ALL cases (6\%). Three of the PTEN variations were first reported in this study. Furthermore, one patient clearly had two different mutant clones for PTEN. Two intronic single-nucleotide variations were found in AKT1 and none of the patients carried pathogenic AKT1 variations. Conclusion: Targeted deep sequencing allowed us to detect both low-level variations and clonal diversity. Low-level PTEN/AKT1 variation frequency makes it harder to investigate the clinical associations of the variants. On the other hand, characterization of the PTEN/AKT signaling members is important for improving case-specific therapeutic strategies.
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    Zinc finger protein 384 (ZNF384) impact on childhood mixed phenotype acute leukemia and B-cell precursor acute lymphoblastic leukemia
    (TAYLOR \& FRANCIS LTD, 2022-01-01) Sudutan, Tugce; Erbilgin, Yucel; Hatirnaz Ng, Ozden; Karaman, Serap; Karakas, Zeynep; Kucukcankurt, Fulya; Celkan, Tiraje; Timur, Cetin; Ozdemir, Gul Nihal; Hacisalihoglu, Sadan; Gelen, Sema Aylan; Sayitoglu, Muge
    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