Victor Garcia-Rodriguez, MD1, Emmanuel Coronel, MD2
1University of Texas Health Science Center, Houston, TX; 2University of Texas MD Anderson Cancer Center, Houston, TX
Introduction: The GI tract is host to a variety of neoplasms of epithelium, neuroendocrine, mesenchymal and hematologic origin. Esophageal sarcomas are extremely rare representing only 0.1-0.5% of all esophageal neoplasms. In this case, we illustrate a case of esophageal synovial sarcoma (ESS) diagnosed by endoscopic ultrasound and fine needle biopsy (EUS-FNB)
Case Description/Methods: A 54-year-old female with a past medical history of multiple myeloma presented with progressive dysphagia of 4-month duration. Physical exam was unremarkable. MRI of the chest showed a mass in the superior mediastinum originating from the esophagus measuring 78mm by 46mm (Fig.1). Upper endoscopy showed an area of extrinsic compression in the upper third of the esophagus (Fig.2). EUS revealed a hypoechoic mass with well-defined borders that appeared to arise from the adventitia layer of the esophagus. No lymph nodes were seen in the mediastinum (Fig.3). EUS-FNB for tissue acquisition was performed. Pathologic evaluation of the tissue revealed spindle cells positive for TLE1, negative for S100, STAT6, DOG1, and CD5 suggestive of ESS. FISH demonstrated the SS18-SSX translocation. Neoadjuvant chemotherapy with doxorubicin and ifosfamide was started prior to surgery.
Discussion: Synovial sarcomas are rare tumors driven by the translocation SS18-SSX. They have an incidence of 800-1000 cases per year in the US, adolescents and young adults are the most commonly affected age groups. The expected 5-year survival ranges from 50-60%. The GI tract can rarely be affected by this tumor and the stomach is the most frequent organ affected. When localized in the esophagus, ESS usually presents as a slow-growing mass causing dysphagia and compressive symptoms. Diagnostic imaging studies can help in identifying the size and location of this tumor. In this case, the tumor appeared as a subepithelial lesion on endoscopic evaluation. EUS revealed that the lesion originated from the outer most layer of the esophagus and FNB was critical in obtaining enough tissue for analysis of tissue architecture and immunohistochemistry. The SS18-SSX translocation can be identified by FISH or RT-PCR. Differentiation between other sarcomas is extremely important given the particular sensitivity of this tumor to alkylating agents. Surgery remains the mainstay of treatment. The role of chemotherapy remains controversial. Due to the size and location of the mass, neoadjuvant chemotherapy with ifosfamide and doxorubicin was started in our patient prior to surgery.
Citation: Victor Garcia-Rodriguez, MD; Emmanuel Coronel, MD. P1215 - ESOPHAGEAL SYNOVIAL SARCOMA DIAGNOSED USING EUS-GUIDED FINE-NEEDLE BIOPSY. Program No. P1215. ACG 2019 Annual Scientific Meeting Abstracts. San Antonio, Texas: American College of Gastroenterology.