Clinical utility of targeted NGS panel with comprehensive bioinformatics analysis for patients with acute lymphoblastic leukemia

Abstract

Acute lymphoblastic leukemia (ALL) is a genetically complex and heterogeneous disease for which a wide range of genetic variations has been identified. With the need for comprehensive high-throughput analysis, we have designed a comprehensive next-generation sequencing (NGS) assay to detect somatic mutations, translocations, and copy number changes and have evaluated its clinical utility in patients with ALL. The panel reliably detected single nucleotide variations (SNV) and copy number variations (CNV) analysis was exceptionally useful in identifying genic and chromosomal CNV which dominated the genetic abnormalities of ALL. We detected SNVs and CNVs simultaneously in a single assay, which could provide an alternative or supplement for several conventional tests and simplify the testing processes. We applied the genetic information obtained to the risk stratification of patients with high risk mutations and further confirmed the clinical utility of the comprehensive genetic testing with intensive bioinformatics analysis.

Keywords:

• Acute lymphoblastic leukemia
• next-generation sequencing
• single nucleotide variation
• copy number variation

Potential conflict of interest

Disclosure forms provided by the authors are available with the full text of this article online at https://doi.org/10.1080/10428194.2019.1627538.

Additional information

Funding

This study was supported by grants from the National Research Foundation of Korea [NRF-2015R1C1A2A01055967, NRF-2016R1D1A1B01010566 and 2018R1C1B6005185].