PTEN and AKT1 variations in childhood T-Cell acute lymphoblastic leukemia
Ng, Ozden Hatirnaz
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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.2019.2019.0282
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.