Clinical utility of targeted NGS panel with comprehensive bioinformatics analysis for patients with acute lymphoblastic leukemia. Issue 13 (10th November 2019)

• Record Type: Journal Article
• Authors: Kim, Borahm; Lee, Hyeonah; Kim, Esl; Shin, Saeam; Lee, Seung-Tae; Choi, Jong Rak
• Is Part Of: Leukemia & lymphoma. Volume 60:Issue 13(2019)
• Page Start: 3138
• Page End: 3145
• Publication Date: 2019-11-10
• Subjects: Acute lymphoblastic leukemia -- next-generation sequencing -- single nucleotide variation -- copy number variation; Leukemia -- Periodicals; Lymphomas -- Periodicals; 616.99419
• DOI: 10.1080/10428194.2019.1627538
• Languages: English
• ISSNs: 1042-8194

Abstract

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.