Case Report
Copyright ©The Author(s) 2015. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastroenterol. May 14, 2015; 21(18): 5739-5743
Published online May 14, 2015. doi: 10.3748/wjg.v21.i18.5739
Esophageal subepithelial lesion diagnosed as malignant gastrointestinal neuroectodermal tumor
Sung Bum Kim, Si Hyung Lee, Mi Jin Gu
Sung Bum Kim, Si Hyung Lee, Department of Internal Medicine, Yeungnam University Hospital, Daegu 705-802, South Korea
Mi Jin Gu, Department of Pathology, Yeungnam University Hospital, Daegu 705-802, South Korea
Author contributions: Lee SH supervised, proof-read, and made required corrections; all authors contributed to designing the report, as well as to the editing and writing of the manuscript.
Ethics approval: This study was reviewed and approved by the institutional review board of Yeungnam University Hospital.
Informed consent: The patient signed informed consent.
Conflict-of-interest: No potential conflict of interest relevant to this article was reported.
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: Si Hyung Lee, MD, Department of Internal Medicine, Yeungnam University Hospital, 170 Hyeonchung-ro, Nam-gu, Daegu 705-802, South Korea. dr9696@nate.com
Telephone: +82-53-6203830 Fax: +82-53-6548386
Received: November 18, 2014
Peer-review started: November 19, 2014
First decision: January 8, 2015
Revised: January 28, 2015
Accepted: February 11, 2015
Article in press: February 11, 2015
Published online: May 14, 2015
Processing time: 181 Days and 5.9 Hours
Abstract

A 21-year-old male visited our hospital with a complaint of aggravating dysphagia and odynophagia for a few days. Esophagogastroduodenoscopy showed huge bulging mucosa with an intact surface causing luminal narrowing at 35 cm from the incisor teeth. Endoscopic ultrasonography showed an about 35 mm sized irregular margined in-homogenous hypoechoic lesion with an obscure layer of origin. Endoscopic ultrasonography fine needle aspiration revealed spindle cell proliferation without immunoreactivity for CD117, SMA, and cytokeratin. The patient underwent excision of the subepithelial lesion at the distal esophagus. On pathologic examination of the specimen, the tumor was composed of short fascicles of oval to spindle cells with eosinophilic and clear cytoplasm and vesicular nuclei. The tumor cells were positive for S-100 and SOX10 and negative for CD117, SMA, HMB-45, melan-A, cytokeratin, and CD99. The split-apart signal was detected in EWSR1 on FISH, suggesting a malignant gastrointestinal neuroectodermal tumor. At the time of writing, the patient is on radiation therapy at the operated site of esophagus and doing well, with no recurrence for three months. Malignant gastrointestinal neuroectodermal tumor is a rare gastrointestinal tumor with features of clear cell sarcoma, without melanocytic differentiation, and shows a poor prognosis. This is the first reported case of malignant gastrointestinal neuroectodermal tumor arising as subepithelial lesion in the esophagus.

Keywords: Subepithelial lesion, Esophagus, Malignant gastrointestinal neuroectodermal tumor, Ewing sarcoma break point region 1 gene, Fluorescence in situ hybridization

Core tip: This is the first reported case of malignant gastrointestinal neuroectodermal tumor arising in the esophagus. Malignant gastrointestinal neuroectodermal tumor is a tumor with a similar morphology, immunophenotype, and molecular genetic features to clear cell sarcoma of tendons and aponeurosis lacking melanocytic differentiation arising in the gastrointestinal tract. Malignant gastrointestinal neuroectodermal tumors show aggressive disease behavior with a poor prognosis.