Cervical lymph node metastasis as the initial presentation of poorly differentiated esophageal carcinoma mimicking breast origin: a diagnostic challenge

Abstract

Esophageal cancer is a highly lethal malignancy that is often diagnosed at advanced stages due to its nonspecific clinical presentation. Progressive dysphagia is the cardinal symptom; however, in some cases the disease may initially manifest through lymph node metastasis, making identification of the primary tumor challenging. We report the case of a 49-yearold woman who presented with a progressively enlarging right cervical mass associated with three months of dysphagia. Computed tomography revealed a nodule in the right carotid space. Lymph node biopsy demonstrated metastasis from a poorly differentiated carcinoma. Immunohistochemistry showed positivity for CK7, focal weak GATA3, and hormone receptors, initially suggesting a breast primary; however, breast imaging studies were negative. Subsequent chest computed tomography identified asymmetric esophageal wall thickening, which was confirmed by upper endoscopy and biopsy as poorly differentiated esophageal carcinoma with significant luminal stenosis. A gastrostomy was performed to provide nutritional support, and combined chemoradiotherapy was planned. Initial presentation of esophageal cancer as metastatic cervical lymphadenopathy is uncommon and may lead to diagnostic confusion, particularly when the immunohistochemical profile suggests an alternative primary tumor. Recognition of these atypical presentations is essential to guide the search for the primary malignancy and enable timely management.