Malignant Gastrointestinal Neuroectodermal Tumor, a Rare Neoplasm, Presenting With Hemoperitoneum and Malena: A Case Report

Résumé fourni par la source

Malignant gastrointestinal neuroectodermal tumor (GNET) are rare malignant mesenchymal tumors. The tumor can present with various symptoms like abdominal pain, anorexia, or small bowel obstruction. Here, we present a case of small intestinal GNET who presented with gastrointestinal bleed and hemoperitoneum, a rare presentation of this disease. This patient was misdiagnosed initially as Crohn’s disease and treated for the same. However, non-response to the standard treatment and onset of new symptoms like malena and ascites raised the suspicion of some alternate diagnosis. Exploratory laparotomy showed the presence of hemoperitoneum along with a mass, 100 cm proximal to ileo-cecal junction. She was successfully treated with surgical resection and anastomosis. Histopathology, immunohistochemistry (diffuse positivity for S100 and weak positivity for synaptophysin) and molecular fluorescence in-situ hybridization (FISH) study (translocation involving the chromosomal region 2212.1-q12.2 which harbors EWSR1 gene) confirmed the diagnosis of GNET.

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.