Ogino S, Konishi H, Ichikawa D, Hamada J, Shoda K, Arita T, Komatsu S, Shiozaki A, Okamoto K, Yamazaki S, Yasukawa S, Konishi E, Otsuji E. Detection of fusion gene in cell-free DNA of a gastric synovial sarcoma. World J Gastroenterol 2018; 24(8): 949-956 [PMID: 29491688 DOI: 10.3748/wjg.v24.i8.949]
Corresponding Author of This Article
Hirotaka Konishi, MD, PhD, Division of Digestive Surgery, Department of Surgery, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Kawaramachi-hirokoji, Kamigyo-ku, Kyoto 602-8566, Japan. h-koni7@koto.kpu-m.ac.jp
Research Domain of This Article
Gastroenterology & Hepatology
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Shinpei Ogino, Hirotaka Konishi, Daisuke Ichikawa, Junichi Hamada, Katsutoshi Shoda, Tomohiro Arita, Shuhei Komatsu, Atsushi Shiozaki, Kazuma Okamoto, Eigo Otsuji, Division of Digestive Surgery, Department of Surgery, Kyoto Prefectural University of Medicine, Kamigyo-ku, Kyoto 602-8566, Japan
Sanae Yamazaki, Satoru Yasukawa, Eiichi Konishi, Department of Surgical Pathology, Kyoto Prefectural University of Medicine, Kamigyo-ku, Kyoto 602-8566, Japan
Author contributions: Ogino S, Konishi H and Otsuji E analyzed the patient data and were major contributor in writing the manuscript; Ichikawa D, Hamada J, Shoda K, Arita T, Komatsu S, Shiozaki A and Okamoto K performed patient treatment and sample collections; Yamazaki S, Yasukawa S and Konishi E performed the pathological diagnosis; all authors read and approved the final manuscript.
Informed consent statement: The study participant provided informed written consent prior to their treatments and study enrollment.
Conflict-of-interest statement: All authors declare no conflict of interest related to this study or its publication.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Correspondence to: Hirotaka Konishi, MD, PhD, Division of Digestive Surgery, Department of Surgery, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Kawaramachi-hirokoji, Kamigyo-ku, Kyoto 602-8566, Japan. h-koni7@koto.kpu-m.ac.jp
Telephone: +81-75-2515527 Fax: +81-75-2515522
Received: December 14, 2017 Peer-review started: December 14, 2017 First decision: January 5, 2018 Revised: January 11, 2018 Accepted: January 20, 2018 Article in press: January 20, 2018 Published online: February 28, 2018 Processing time: 74 Days and 22.3 Hours
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.
Core tip: Synovial sarcoma (SS) is genetically characterized by SYT-SSX fusion transcripts and detection of the fusion gene is necessary for a definitive diagnosis. This study demonstrated the detection of fusion sequence using cfDNA sample. A small gastric SS was detected in the stomach of a 27-year-old woman. Candidate intronic primers were designed and the intronic breakpoint was confirmed by PCR and direct sequencing in frozen tumor sample. A probe specific for fusion sequence was designed and the sequence was detected in preoperative cfDNA and frozen tumor sample. This technique will be useful for monitoring translocation-derived diseases such as SS.
