Development and Validation of an RNA Sequencing Assay for Gene Fusion Detection in Formalin-Fixed, Paraffin-Embedded Tumors

RNA sequencing (RNA-seq) is a well-validated tool for detecting gene fusions in fresh frozen tumors, whereas it is much more challenging to use it with formalin-fixed paraffin-embedded (FFPE) tumor samples. We evaluated the performance of RNA-seq to detect gene fusions in clinical FFPE tumor samples. Our assay identified all 15 spiked-in NTRK fusions from RNA reference material and 6 known fusions from 5 cancer cell lines. Limit of detection for the assay was assessed with a series of dilutions of RNA from the cell line H2228.

Source: Journal of Molecular Diagnostics - November 30, 2020 Category: Pathology Authors: Hao Peng, Rong Huang, Kui Wang, Cuiyun Wang, Bin Li, Youbing Guo, Meng Li, Dadong Zhang, Hua Dong, Hao Chen, Caifu Chen, Qing Xu, Fugen Li, Lei Tian, Jianbing Wu Source Type: research