Support

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

The Journal of Molecular Diagnostics | Published online: September, 2018

Borahm Kim, Hyeonah Lee, Saeam Shin, Saeam ShinEmail the author Saeam Shin, Seung-Tae Lee, Seung-Tae LeeEmail the author Seung-Tae Lee, Jong Rak Choi

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 panel (ArcherDX, Inc.), 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 reverse transcription-PCR, as well as a case with KMT2A-AFF1 with false-negative results in reverse transcription-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 reverse transcription-PCR should be selected.

This website stores cookies on your computer. These cookies are used to improve your website and provide more personalized services to you, both on this website and through other media. To find out more about the cookies we use, see our Privacy Policy.

We won’t track your information when you visit our site. But in order to comply with your preferences, we’ll have to use just one tiny cookie so that you’re not asked to make this choice again.