Malignant Gastrointestinal Neuroectodermal Tumor: A New Kid on the Block?

Abstract

Also referred to as “osteoclast-rich, clear cell sarcoma–like tumor of the gastrointestinal tract (CCSLGT),” malignant gastrointestinal neuroectodermal tumor is a newly described, rare, aggressive sarcoma that commonly arises in the small bowel, stomach, and colon. Histogenesis is likely from an autonomous nervous system–related primitive cell of neural crest origin. The hallmark genetic finding of EWS-CREB1 or EWS-ATF1 fusion transcripts clinches the diagnosis. Annular constrictive lesions tend to be smaller, show homogenous contrast enhancement on computed tomography, and may present with bowel obstruction. Larger, expansile masses tend to be exophytic and show heterogeneous contrast enhancement. Surgical resection is the mainstay of treatment. Frequent recurrences, metastases, and death from disease in 75% of patients portend a poor prognosis. Targeted chemotherapy based on specific tumor pathways is being developed.

Clear Cell Sarcoma-Like Tumor of the Gastrointestinal Tract with Peritoneal Metastasis in a Young Adult: A Case Report with Literature Review

“…CCSLTGT is a rare malignant soft tissue tumor of the GI tract, which occurs most commonly in young adults. More than 60% of the patients are aged below 45 years, with a median age of 35 years at diagnosis ( 1 ). Patients usually present with abdominal pain, vomiting, abdominal distension, weight loss, and anemia.…”

“…The etiology of CCSLTGT is unknown, but some case reports have suggested that a history of radiotherapy may be related to the pathogenesis of the disease ( 4 ). CCSLTGT occurs most commonly in the small bowel wall, but can also occur in the stomach, colon, esophagus, and anal canal ( 1 ). Since a mass originating from the small bowel cannot be detected easily via GI endoscopic examination, CT is a particularly important modality to diagnose CCSLTGT.…”

“…To the best of our knowledge, only seven papers have described the radiological findings of a CCSLTGT in the small intestine ( Table 1 ) ( 1 5 6 7 8 9 ). The patients’ ages ranged from 16 to 69 years, and the mean and median ages were 35.5 and 31.0 years, respectively.…”

“…Half of the cases involved the ileum and the remaining ones involved the jejunum. There were six reports describing tumor morphology, among them, four patients showed bowel wall thickening ( 1 5 6 7 ) and the others presented with an exophytic appearance or intraluminal protruding tumor ( 8 9 ). Four reports illustrated the enhancement pattern of the tumor, and three patients showed mild to moderate progressive enhancement ( 5 8 9 ).…”

“…Clear cell sarcoma-like tumor of the gastrointestinal tract (CCSLTGT), also referred to as malignant gastrointestinal neuroectodermal tumor is a rare malignant mesenchymal tumor of the gastrointestinal (GI) tract, which arises from primitive neural crest cells that are related to the autonomous nervous system in the bowel wall ( 1 ). Zambrano et al ( 2 ) first described an osteoclast-rich tumor of the GI tract that resembled clear cell sarcoma (CCS) on pathological examination.…”