Detection of fusion gene in cell-free DNA of a gastric synovial sarcoma

World Journal of Gastroenterology : WJG
Shinpei OginoEigo Otsuji

Abstract

Synovial sarcoma (SS) is genetically characterized by chromosomal translocation, which generates SYT-SSX fusion transcripts. Although SS can occur in any body part, primary gastric SS is substantially rare. Here we describe a detection of the fusion gene sequence of gastric SS in plasma cell-free DNA (cfDNA). A gastric submucosal tumor was detected in the stomach of a 27-year-old woman and diagnosed as SS. Candidate intronic primers were designed to detect the intronic fusion breakpoint and this fusion sequence was confirmed in intron 10 of SYT and intron 5 of SSX2 by genomic polymerase chain reaction (PCR) and direct sequencing. A locked nucleic acid (LNA) probe specific to the fusion sequence was designed for detecting the fusion sequence in plasma and the fusion sequence was detected in preoperative plasma cfDNA, while not detected in postoperative plasma cfDNA. This technique will be useful for monitoring translocation-derived diseases such as SS.

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Citations

Oct 14, 2020·EMBO Molecular Medicine·Thomas Gp GrünewaldDominique Heymann
Dec 30, 2020·International Journal of Surgery Case Reports·Charles Marchand CretyFelix Felici
Feb 13, 2019·Annals of Oncology : Official Journal of the European Society for Medical Oncology·A OtandaultA R Thierry
Nov 11, 2019·Molecular Aspects of Medicine·Heidi Maria NamløsLeonardo A Meza-Zepeda
Mar 3, 2021·World Journal of Surgical Oncology·Matteo RivelliCorrado Pedrazzani
Jul 6, 2021·Proceedings·Junlin ZhangAtin Agarwal

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Methods Mentioned

BETA
PCR
biopsy
electrophoresis
biopsies

Software Mentioned

BLAST
StepOne

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