Kucukcankurt, FulyaErbilgin, YucelFirtina, SinemNg, Ozden HatirnazKarakas, ZeynepCelkan, TirajeUnuvar, AysegulOzbek, UgurSayitoglu, Muge2023-02-212023-02-212020-01-0110.4274/tjh.galenos.2019.2019.0282https://hdl.handle.net/11443/2337http://dx.doi.org/10.4274/tjh.galenos.2019.2019.0282Objective: 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.T-ALLPTENAKT1Next-generation sequencingArticleWOS:000531086600004