Abstract

We report the case of a 48-year-old gentleman affected by diffuse metastatic gastroesophageal junction (GEJ). Positron emission tomography (PET) scan demonstrated diffuse metastatic disease involving brain, heart, lungs, liver and adrenal glands. Transthoracic echocardiogram showed a mass in the left ventricular apex measuring 2.46 cm × 1.32 cm. Cardiac Magnetic resonance imaging (MRI) showed 2.3 cm mass in the apex of the left ventricle. Peripheral blood circulating tumor DNA (ctDNA) analysis confirmed dissemination of cancer and showed mutations in TP53, AR, PIK3CA, and Erbb2 amplification. Combination chemotherapy consisting of trastuzumab, capecitabine and oxaliplatin was initiated with a significant reduction of tumor markers: CEA from 60.7 to 19.7 ng/mL (67.5%) and CA19-9 from 2104 to 139 Units/mL (93.4%). A repeated PET scan demonstrated resolution of FDG avidity of left ventricle/pericardium, decreased avidity and size of adrenal gland masses, lung nodules and primary esophageal mass. We reviewed and summarized the recent literatures regarding the clinical presentations, diagnostic tools, tumor histology, treatment modalities and clinical prognosis of cardiac metastases from esophageal cancer. This report also highlights the potential role of ctDNA as a cost effective marker in the management of metastatic esophageal cancer.

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