Malignant Gastrointestinal Neuroectodermal Tumour—Case Report with Review of Literature

A Case Series of Metastatic Malignant Gastrointestinal Neuroectodermal Tumors and Comprehensive Genomic Profiling Analysis of 20 Cases

“…Briefly, metastatic GNET has generally variable response to standard sarcoma-based systemic chemotherapy regimens. Although most cases reported poor chemotherapy sensitivity [ 1 , 13 , 16 , 24 , 33 , 34 , 41 , 42 , 43 ], which is in keeping with the morphologically similar entity CCS [ 52 ], a few cases reported partial response (PR) or stable disease (SD) [ 1 , 8 , 46 , 50 ]. Interestingly, gastrointestinal cancer-based chemotherapy such as oxaliplatin, irinotecan and paclitaxel were also explored in one patient who achieved a short-lived clinical benefit [ 1 ].…”

“…The median age at diagnosis of GNET is 36 years, however GNET patients present with a wide range of age distribution and no gender predilection [ 1 , 2 , 3 , 8 ]. Patients commonly present with gastrointestinal symptoms including abdominal discomfort/pain, distension, obstruction, ascites, pelvic effusions, or abdominal masses clinically or on imaging [ 1 , 2 , 3 , 8 ]. Nonspecific symptoms such as anorexia, anemia, weight loss, high-grade fever, and weakness have also been described in case reports [ 1 , 3 , 9 ].…”

“…This variability of clinical presentation aligns with our 3 clinical cases presented here. GNET originate primarily in the small intestine, and less commonly in the stomach, large intestine, ileocecal junction, anal canal, and lower esophagus [ 1 , 3 , 8 ]. Metastatic disease is not uncommonly established at the time of diagnosis, found in 29% of cases in a small case series [ 1 ].…”

“…Interestingly, gastrointestinal cancer-based chemotherapy such as oxaliplatin, irinotecan and paclitaxel were also explored in one patient who achieved a short-lived clinical benefit [ 1 ]. It is notable that treatment response to chemotherapy is not necessarily related to higher Ki-67 or mitotic rate [ 1 , 8 ]. Two of our cases (case 2 and 3) demonstrated a degree of chemo-resistance, one of which had a relatively high Ki-67 of 20%.…”

An Incidental Malignant Gastrointestinal Neuroectodermal Tumor of the Stomach: A Rare Case Report and a Literature Review

“…The clinical presentation varies from symptoms of anemia, weight loss, and abdominal pain to an abdominal mass that can cause intestinal obstruction and is usually detected by a CT scan [7,8]. Gross examination of the tumor usually shows an endophytic mass that gradually infiltrates the mucosa.…”