Fine Needle Aspiration Cytology of Malignant Digestive System Gastrointestinal Neuroectodermal Tumor in a Lymph Node Metastasis from a Previously Diagnosed Liver Primary: A Case Report and Review of Literature

Abstract

Malignant gastrointestinal neuroectodermal tumor (GNET) is an extremely rare neoplasm. Immunohistochemically, GNET typically demonstrates neural differentiation but lacks melanocytic differentiation, making it distinct from clear cell sarcoma of the soft tissues (CCS). Herein we report for the first time the cytomorphologic features of lymph node metastasis from presumably liver GNET. A 36‐year‐old female presented with fevers, night sweats, loss of appetite, and a 20‐lbs weight loss. Radiographic imaging showed a 13 cm heterogeneously enhancing mass in the right lobe of the liver and a hypermetabolic 0.9 cm periportal lymph node on positron emission tomography–computed tomography (PET/CT). Initially, a CT‐guided liver biopsy was performed followed by right hepatic lobectomy and portal lymphadenectomy. The liver biopsy and resection showed an S100‐protein and SOX10 positive malignant neoplasm and genomic profiling of liver biopsy revealed EWSR1‐CREB1gene rearrangement. These findings in conjunction with the morphologic and immunohistochemical profile were diagnostic of GNET. Two months later, she presented with recurrent lymphadenopathy in the upper abdomen. Fine needle aspiration of the periportal nodal mass revealed single and clusters of primitive, large to medium‐sized neoplastic cells with round to oval nuclei, high nuclear‐cytoplasmic ratio, vesicular chromatin, and prominent nucleoli. The tumor cells were S100 protein and SOX10 positive, consistent with metastasis of the patient's recently diagnosed malignant digestive system GNET. Palliative chemotherapy was administered but the patient died a few days later, 4 months from the initial diagnosis. Awareness of this entity and judicial use of ancillary studies including molecular testing are essential for achieving accurate diagnosis.

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 ].…”

“…Stockman et al suggests that GNET tumors “may arise from an autonomic nervous system-related primitive cell of neural crest derivation that shows a neural line of differentiation with complete absence of melanocytic features”, supporting the Antonescu et al theory of GNET arising from neuroectodermal precursor cells with lost differentiating potential [ 3 , 10 ]. Additionally, it is notable that mitotic rate and Ki-67 of reported GNET cases spanned a wide range between 1–30 (most cases around 10–12) of 10 High Power Field and 5–90% (most cases around 20%) respectively [ 1 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 ]. This observation is consistent with our reported cases.…”

“…Other adjuvant sarcoma-based systemic treatments such as doxorubicin or epirubicin and ifosfamide, doxorubicin and dacarbazine, dacarbazine and cisplatin, vincristine, doxorubine and cyclophosphamide have been used in some case reports with variable outcomes and follow up [ 1 , 14 , 15 , 18 , 25 , 40 , 41 ]. Some reports did not specify the type of adjuvant chemotherapy [ 2 , 13 , 24 , 42 , 43 ].…”

Malignant gastrointestinal neuroectodermal tumour arising in the extrahepatic bile ducts; a rare neoplasm in an unusual anatomic location

“…The most often reported primary sites include the small bowel and less frequently the stomach and colon. There have been rare reports in the literature of GNETs arising in the oral cavity,5 6 oesophagus7 and liver 8. Here we present a case of GNET arising in the extrahepatic bile ducts of a woman in her mid-30s and discuss the clinical findings along with the histologic and molecular features.…”

The phospholipase PNPLA7 functions as a positive indicator in human colorectal and gastric cancers

“…Colorectal and gastric cancers seriously threaten human life and health. [ 1 ] Gastric cancer ranks 4th among malignant tumors in the world, and its etiology may be related to dietary factors, Helicobacter pylori infection, genetic factors, and geographical environment. [ 2 ] The 5-year survival rate of 27% of newly diagnosed gastric cancer patients is 30.4%, which remains stable over the past 30 to 40 years, and the 5-year overall survival rate of patients is < 5%.…”