Diagnostic Validation of a Clinical Laboratory-Oriented Targeted RNA Sequencing System for Detecting Gene Fusions in Hematologic Malignancies

Comparative evaluation of the developed targeted RNA sequencing system and a commercialized test panel

“…However, the RNA-seq method is not widely used due to the complexity of the data processing and interpretation. The authors developed a targeted RNA-seq panel (KBB-RNAseq NGS-Leukemia- PHB; KBlueBio Inc., Hwasun, Korea) and bioinformatics pipeline that can be used for targeted RNA-seq to detect gene fusions, sequence variants, and altered gene expression, and is more convenient than traditional RNA-seq methods for use in clinical hematology laboratories [ 3 ]. The targeted RNA-seq panel and analysis pipeline, developed using information technology with an automated reporting system and commercialized by the authors, was subjected to a comparative evaluation with a commercialized targeted RNA- seq panel (Archer TM FusionPlex TM Heme Panel version 2, Archer DX, Boulder, CA, USA) using leukemia patient samples.…”

“…A commercial targeted RNA-seq analysis system developed by constructing a cDNA library for specific genes using anchored multiplex PCR [ 3 ] was compared to the detection system (KBB-RNAseq NGS-Leukemia-PHB) developed by the authors [ 4 ]. For this comparative evaluation, four cases of B-ALL, two cases of AML, and one case each of acute promyelocytic leukemia and T-ALL were used.…”

The application of targeted RNA sequencing for the analysis of fusion genes, gene mutations, IKZF1 intragenic deletion, and CRLF2 overexpression in acute lymphoblastic leukemia

“…In addition, due to the diversity of genetic variation in patients with Ph‐like ALL, a comprehensive range of cytogenetic and molecular analyses is currently necessary for clinical detection. Interestingly, RNA‐seq serves as an efficient method for simultaneous detection of multiple genetic alterations in a single test, as recently reported 7–10 . The detection of multiple genetic abnormalities (fusion genes, gene mutations, gene overexpression, and intragenic deletion) highlighted its robust data processing capability.…”

“…Interestingly, RNA-seq serves as an efficient method for simultaneous detection of multiple genetic alterations in a single test, as recently reported. [7][8][9][10] The detection of multiple genetic abnormalities (fusion genes, gene mutations, gene overexpression, and intragenic deletion) highlighted its robust data processing capability. However, there are still many aspects that need to be improved for the use of RNA-seq in the clinical settings.…”