Introduction
There are over 26,000 people diagnosed with gastric cancer annually in the US. Malignant gastric neuroectodermal tumors (GNETs) are extremely rare neoplasms with only about 100 reported cases. We describe a case of a 28-year-old man who presented with acute blood loss and anemia, secondary to a gastric mass revealed to be a malignant GNET.
Case Description
A 28-year-old otherwise healthy male, presented to the emergency department with coffee-ground emesis, tarry stools, and anemia secondary to hypovolemia. After resuscitation and multiple blood transfusions, the work-up included targeted imaging studies, EGD with biopsy, and subsequent histopathological interpretation. Radical treatment consisted of a subtotal gastrectomy with a Roux-en-Y anastomosis and lymphadenectomy. The resected portion of stomach and associated specimens were submitted to pathology. Gross examination revealed an intramurally oriented, 7.5 cm, firm, annular, well-demarcated mass, consisting of a diffusely homogenous, tan-white, fleshy, lobulated cut surface. No hemorrhage or necrosis was appreciated throughout. Grossly the mass appeared well contained within the subepithelial gastric tissue, and showed no involvement of the serosal surface. Microscopically, the mass was comprised of abundant compact chords of bland, pleomorphic, epithelioid cells, situated in a vaguely nested pattern. A broad panel of immunohistochemistry stains (IHC) were performed, with tumor cells showing strong positivity for S100 and SOX10, and weak, patchy positivity for synaptophysin. The melanocytic markers MelanA and HMB45 were both negative, along with CD56, chromogranin, and cytokeratin. Molecularly, malignant GNET most commonly harbors a translocation of the EWSR1 gene from chromosome 22, which most commonly fuses with the ATF1 gene, or the CREB1 gene. Fluorescence in situ hybridization (FISH) analysis revealed that our patient’s tumor was positive for an EWSR1 gene rearrangement, confirming the diagnosis of malignant GNET. To date, there is no consensus amongst clinicians regarding treatment. However, the sparse case reports that do exist, show a high liklihood of metastasis at presentation, along with a high overall mortality. At a minimum, these patients should be followed closely at regular intervals. Fortunately, our patient showed no signs of metastasis throughout his clinical course and is continuing to achieve favorable postoperative milestones.
Discussion
Malignant GNET is an exceedingly rare sarcoma, with aggressive behavior and a very high associated mortality rate. Accordingly, awareness of this entity among clinicians is paramount, as early detection and surgical intervention are vital for extending survival.
