دورية أكاديمية
PTEN and AKT1 variations in childhood T-Cell acute lymphoblastic leukemia
العنوان: | PTEN and AKT1 variations in childhood T-Cell acute lymphoblastic leukemia |
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المؤلفون: | Küçükcankurt, Fulya, Erbilgin, Yücel, Fırtına, Sinem, Ng, Özden Hatırnaz, Karakaş, Zeynep, Celkan, Tülin Tiraje, Ünüvar, Ayşegül, Özbek, Uğur, Sayitoglu, Muge |
المساهمون: | İstinye Üniversitesi, Mühendislik ve Doğa Bilimleri Fakültesi, Moleküler Biyoloji ve Genetik Bölümü, Sinem Fırtına / 0000-0002-3370-8545, Fırtına, Sinem, Sinem Fırtına / X-8520-2018, Sinem Fırtına / 16642650000 |
بيانات النشر: | Galenos Yayincilik |
سنة النشر: | 2020 |
مصطلحات موضوعية: | T-All, Pten, Akt1, Next-Generation Sequencing |
الوصف: | 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. ; Research Fund of Istanbul UniversityIstanbul University [48185]; Istanbul Development AgencyTurkiye Cumhuriyeti Kalkinma Bakanligi [TR10/15/YNK/0093] ; The present work was supported by the Research Fund of Istanbul University (Project No. 48185) and the Istanbul Development Agency, Investment in the Future: Project of BIOBANK (Project No: TR10/15/YNK/0093). ; WOS:000531086600004 ; 31744268 ; Q4 |
نوع الوثيقة: | article in journal/newspaper |
وصف الملف: | application/pdf |
اللغة: | English |
تدمد: | 1300-7777 1308-5263 |
العلاقة: | Turkish Journal of Hematology; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Kucukcankurt, F., Erbilgin, Y., Firtina, S., Ng, O. H., Karakas, Z., Celkan, T., … Sayitoglu, M. (2020). PTEN and AKT1 Variations in Childhood T-Cell Acute Lymphoblastic Leukemia. TURKISH JOURNAL OF HEMATOLOGY, 37(2), 98–103. https://doi.org/10.4274/tjh.galenos.2019.2019.0282Test; https://doi.org/10.4274/tjh.galenos.2019.2019.0282Test; https://hdl.handle.net/20.500.12713/472Test; 37; 98; 103 |
DOI: | 10.4274/tjh.galenos.2019.2019.0282 |
الإتاحة: | https://doi.org/20.500.12713/472Test https://doi.org/10.4274/tjh.galenos.2019.2019.0282Test https://hdl.handle.net/20.500.12713/472Test |
حقوق: | info:eu-repo/semantics/openAccess |
رقم الانضمام: | edsbas.573DA183 |
قاعدة البيانات: | BASE |
تدمد: | 13007777 13085263 |
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DOI: | 10.4274/tjh.galenos.2019.2019.0282 |