Establishment of multiplex RT-PCR to detect fusion genes for the diagnosis of Ewing sarcoma.

ABSTRACT:

Background

Detection of the tumor-specific EWSR1/FUS-ETS fusion gene is essential to diagnose Ewing sarcoma. Reverse transcription-polymerase chain reaction (RT-PCR) and fluorescence in situ hybridization are commonly used to detect the fusion gene, and assays using next-generation sequencing have recently been reported. However, at least 28 fusion transcript variants have been reported, making rapid and accurate detection difficult.

Methods

We constructed two sets of multiplex PCR assays and evaluated their utility using cell lines and clinical samples.

Results

EWSR1/FUS-ETS was detected in five of six tumors by the first set, and in all six tumors by the second set. The fusion gene detected only by the latter was EWSR1-ERG, which completely lacked exon 7 of EWSR1. T

SUBMITTER: Ueno-Yokohata H 

PROVIDER: S-EPMC8573982 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature