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Clinical Evaluation of Massively Parallel RNA Sequencing for Detecting Recurrent Gene Fusions in Hematologic Malignancies

Authors
 Borahm Kim  ;  Hyeonah Lee  ;  Saeam Shin  ;  Seung-Tae Lee  ;  Jong Rak Choi 
Citation
 JOURNAL OF MOLECULAR DIAGNOSTICS, Vol.21(1) : 163-170, 2019 
Journal Title
 JOURNAL OF MOLECULAR DIAGNOSTICS 
ISSN
 1525-1578 
Issue Date
2019
Abstract
The application of next-generation sequencing (NGS) technology in clinical diagnostics should proceed with care. We have evaluated the clinical validity of two commercially available RNA fusion panels, the TruSight RNA fusion panel (Illumina) and FusionPlex Pan-Heme Kit (ArcherDx), to detect recurrent translocations in hematologic malignancies. Twenty-four bone marrow samples taken at the initial diagnosis of patients with acute leukemia and chronic myeloid leukemia were included. To assess the limit of detection, serial dilutions of BCR-ABL1 (e1a2)-positive RNAs were prepared using a commercial reference material. Both NGS panels detected 19 cases with recurrent translocations identified with RT-PCR, as well as a case with KMT2A-AFF1 with false-negative results on RT-PCR. Two rare translocations, DDX3X-MLLT10 and NUP98-HOXC13, were additionally identified using NGS panels. The detection limit ranged from 10-1 to 10-2, which was not satisfactory for samples with low tumor burden. To conclude, RNA fusion panels were suitable for the initial diagnosis; however, for follow-up samples, conventional RT-PCR should be selected.
Full Text
https://www.sciencedirect.com/science/article/pii/S1525157818301107
DOI
10.1016/j.jmoldx.2018.09.002
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
Yonsei Authors
Kim, Borahm(김보람) ORCID logo https://orcid.org/0000-0003-0923-7744
Lee, Seung-Tae(이승태) ORCID logo https://orcid.org/0000-0003-1047-1415
Choi, Jong Rak(최종락) ORCID logo https://orcid.org/0000-0002-0608-2989
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/169498
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