Next‐generation sequencing of PTEN mutations for monitoring minimal residual disease in T‐cell acute lymphoblastic leukemia

Minimal residual disease (MRD) analysis has become a powerful indicator to refine therapy in acute lymphoblastic leukemia (ALL). Here, we present an MRD detection based on the next‐generation sequencing of PTEN exon 7 mutations (NGS‐PTEN) in 30 pediatric T‐cell ALL patients. By comparing the NGS‐PTEN results with current quantitative PCR of antigen receptor gene rearrangements (qPCR‐Ig/TR), an overall concordance of 80% was found between the two methods. However, the NGS‐PTEN qualified a lower number of high‐risk patients than qPCR‐Ig/TR. These findings suggest that NGS‐PTEN is a promising tool that could potentially be used to support current MRD methodologies for T‐ALL patients.

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