PTEN and AKT1 Variations in Childhood T-cell Acute Lymphoblastic Leukemia

Objective: PTEN/AKT pathway deregulations have been reported to be associated with treatment response in acute leukemia. This study examined the pediatric 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 PTEN and AKT1 genes by targeted next generation sequencing. Results: FivePTEN variations were found 6% of the 50 T-ALL cases. Three of the PTEN variations were firstly reported by this study. Furthermore, one patient clearly had two different mutant clones for PTEN. Two intronic SNVs were found in the 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 is making 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 the case specific therapeutic strategies.