Primary malignant melanoma of the esophagogastric junction: A case report

RATIONALE: Most gastrointestinal melanomas are metastatic from an oculocutaneous primary lesion; however, primary gastrointestinal melanomas have been found in all levels of the gastrointestinal tract. We present the case of Primary malignant melanoma of the esophagus and discuss the diagnostic methods, differentiation from metastatic lesions and treatment options. PATIENT CONCERNS: A 78-year-old male patient presented with fresh blood vomiting and tarry stools for 1 day. DIAGNOSES: Esophagogastroduodenoscopy of this patient revealed a tumor ∼4 cm in size at the cardia side of the esophagogastric junction with dark-red and gray pigmentation. Immunohistochemical stains of the biopsy specimens were positive for S-100 and HMB-45, which are specific markers of melanoma. INTERVENTIONS: Laparotomy with proximal gastrectomy was performed by the surgeon. Histological examination of the surgical specimen revealed the tumor arose from the distal esophagus with invasion of the proximal stomach. Primary malignant melanoma of the esophagus was diagnosed after a full skin and ophthalmic examination and positron emission tomography, which revealed no lesions elsewhere in the body. OUTCOMES: No tumor recurrence was noted at the 1-year follow-up. LESSONS: Primary malignant melanoma of the esophagus is an extremely rare but highly aggressive tumor. The special pattern of pigmentation should be recognized while performing endoscopy. Early detection and radical resection of the tumor are critical to ensure favorable outcomes.