and 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 pediatric T-cell acute lymphoblastic leukemia (T-ALL) samples for and 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 and 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 variations were first reported in this study. Furthermore, one patient clearly had two different mutant clones for . Two intronic single-nucleotide variations were found in and none of the patients carried pathogenic variations.

CONCLUSION

Targeted deep sequencing allowed us to detect both low-level variations and clonal diversity. Low-level 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.