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Primary malignant melanoma of the esophagus

The occurrence of esophageal melanoma is extremely rare. We report the case of an elderly patient with a primary malignant melanoma of the esophagus who presented to a Belgian hospital with a history of dysphagia and significant weight loss.

Take Home Messages

Primary malignant melanomas of the esophagus are rare, aggressive tumors with a usually fatal prognosis and should be considered in the differential diagnosis of voluminous, polypoid masses found in the esophagus on chest CT.

Primary malignant melanoma most commonly arises from the skin; less common sites involve the squamous mucous membranes, uvea, retina, leptomeninges, urogenital tract, and others. Primary malignant melanoma of the esophagus is a rare but very aggressive tumor with a poor prognosis. Surgical esophageal resection is the therapeutic option of choice. However, metastases are common and the prospects of long-term survival are usually low.

The 80-year-old patient with no specific medical history presented to the hospital with a history of dysphagia and a weight loss of 13kg in the last 2 months. Physical examination was unremarkable. A blood test revealed iron deficiency anemia. Gastroscopy was performed and revealed a voluminous, prominent polypoid purplish-black lesion in the lower third of the esophagus extending to the gastric cardia. At the initial endoscopic examination, biopsies were performed and histology revealed a malignant melanoma with expression of S100 and SOX10 on immunohistochemistry, with no mutations (BRAF, NRAS, c-KIT) detected.
A complete clinical examination, including endoscopic ultrasound, whole-body computed tomography (CT), PET-CT, cerebral magnetic resonance imaging, dermatological and ophthalmological examination, revealed no other suspicious lesions.

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