1. Detection of fusion gene in cell-free DNA of a gastric synovial sarcoma
- Author
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Shinpei Ogino, Satoru Yasukawa, Shuhei Komatsu, Eigo Otsuji, Tomohiro Arita, Daisuke Ichikawa, Sanae Yamazaki, Hirotaka Konishi, Kazuma Okamoto, Eiichi Konishi, Junichi Hamada, Atsushi Shiozaki, and Katsutoshi Shoda
- Subjects
0301 basic medicine ,Adult ,Gastric synovial sarcoma ,Oncogene Proteins, Fusion ,Gastric Synovial Sarcoma ,Biopsy ,Case Report ,Fusion gene ,law.invention ,Circulating Tumor DNA ,03 medical and health sciences ,chemistry.chemical_compound ,Sarcoma, Synovial ,Plasma ,0302 clinical medicine ,law ,Stomach Neoplasms ,Gastroscopy ,medicine ,Biomarkers, Tumor ,Humans ,Locked nucleic acid ,Polymerase chain reaction ,Cell free DNA ,Chemistry ,Reverse Transcriptase Polymerase Chain Reaction ,Breakpoint ,Stomach ,Gastroenterology ,Intron ,General Medicine ,Sequence Analysis, DNA ,medicine.disease ,Molecular biology ,Synovial sarcoma ,Introns ,030104 developmental biology ,030220 oncology & carcinogenesis ,Female ,DNA - 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.
- Published
- 2017