Published online May 14, 2015. doi: 10.3748/wjg.v21.i18.5739
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
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.
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.