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©The Author(s) 2018. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastroenterol. Feb 28, 2018; 24(8): 949-956
Published online Feb 28, 2018. doi: 10.3748/wjg.v24.i8.949
Detection of fusion gene in cell-free DNA of a gastric synovial sarcoma
Shinpei Ogino, Hirotaka Konishi, Daisuke Ichikawa, Junichi Hamada, Katsutoshi Shoda, Tomohiro Arita, Shuhei Komatsu, Atsushi Shiozaki, Kazuma Okamoto, Sanae Yamazaki, Satoru Yasukawa, Eiichi Konishi, Eigo Otsuji
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
ARTICLE HIGHLIGHTS
Case characteristics
A 27-year-old woman presented upper abdominal pain.
Clinical diagnosis
Upper abdominal tenderness associated to the gastric tumor.
Differential diagnosis
Stomach tumor including cancer or gastrointestinal stromal tumor.
Laboratory diagnosis
Blood tests ruled out opportunistic infections and severe anemia.
Imaging diagnosis
Upper gastrointestinal endoscopy and ultrasound endoscopy showed a small submucosal tumor less than 20 mm in diameter in the stomach.
Pathological diagnosis
Histological examination of the biopsies showed a spindle cell sarcoma compatible with SS. SYT-SSX2 fusion gene was detected using biopsy samples by RT-PCR methods.
Treatment
The submucosal tumor was resected by laparosopic and ecdoscopic cooperative surgery.
Related reports
Previous cases of SS whose intronic breakpoints were confirmed using tumor samples have been described.
Term explanation
SYT-SSX fusion gene is SS-specific genetic alternation and detection of SYT-SSX contributes much to the diagnosis of SS.
Experiences and lessons
In patients with SS and other translocation-related diseases, detection of fusion genes specific for those diseases is a powerful diagnostic tool and the detection using liquid sample, such as blood, can be a valuable and less invasive monitoring tool as well.
