PTEN and AKT1 variations in childhood T-Cell acute lymphoblastic leukemia

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dc.authoridSinem Fırtına / 0000-0002-3370-8545en_US
dc.authorscopusidSinem Fırtına / 16642650000
dc.authorwosidSinem Fırtına / X-8520-2018
dc.contributor.authorKüçükcankurt, Fulya
dc.contributor.authorErbilgin, Yücel
dc.contributor.authorFırtına, Sinem
dc.contributor.authorNg, Özden Hatırnaz
dc.contributor.authorKarakaş, Zeynep
dc.contributor.authorCelkan, Tülin Tiraje
dc.contributor.authorÜnüvar, Ayşegül
dc.contributor.authorÖzbek, Uğur
dc.contributor.authorSayitoglu, Muge
dc.date.accessioned2020-08-30T20:06:19Z
dc.date.available2020-08-30T20:06:19Z
dc.date.issued2020
dc.departmentİstinye Üniversitesi, Mühendislik ve Doğa Bilimleri Fakültesi, Moleküler Biyoloji ve Genetik Bölümüen_US
dc.description.abstractObjective: 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.en_US
dc.description.sponsorshipResearch Fund of Istanbul UniversityIstanbul University [48185]; Istanbul Development AgencyTurkiye Cumhuriyeti Kalkinma Bakanligi [TR10/15/YNK/0093]en_US
dc.description.sponsorshipThe 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).en_US
dc.identifier.citationKucukcankurt, 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.2019.2019.0282en_US
dc.identifier.doi10.4274/tjh.galenos.2019.2019.0282en_US
dc.identifier.endpage103en_US
dc.identifier.issn1300-7777en_US
dc.identifier.issn1308-5263en_US
dc.identifier.issue2en_US
dc.identifier.pmid31744268en_US
dc.identifier.scopus2-s2.0-85084271608en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage98en_US
dc.identifier.urihttps://doi.org/10.4274/tjh.galenos.2019.2019.0282
dc.identifier.urihttps://hdl.handle.net/20.500.12713/472
dc.identifier.volume37en_US
dc.identifier.wosWOS:000531086600004en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorFırtına, Sinemen_US
dc.language.isoenen_US
dc.publisherGalenos Yayinciliken_US
dc.relation.ispartofTurkish Journal of Hematologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectT-Allen_US
dc.subjectPtenen_US
dc.subjectAkt1en_US
dc.subjectNext-Generation Sequencingen_US
dc.titlePTEN and AKT1 variations in childhood T-Cell acute lymphoblastic leukemiaen_US
dc.typeArticleen_US

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