Primary Amelanotic Malignant Melanoma of the Esophagus

David L. Carr-Locke, MD, FRCP; Karishma Mehra, MBBS; Sonal Kumar, MD; Cheryl Adackapara, MD


November 19, 2009

Introduction and Case Presentation


Primary malignant melanoma of the esophagus (PMME) is a rare tumor, accounting for only 0.1%-0.2% of all primary malignancies of the esophagus.[1] Amelanotic primaries in the esophagus are extremely rare, with true amelanotic PMME showing no pigment on histologic examination and representing only 2% of all esophageal primary neoplasms.[2] We describe a case of primary amelanotic melanoma of the esophagus presenting as an esophageal mass.

Case Presentation

A 66-year-old white woman presented with a 3-month history of intermittent retrosternal chest discomfort. She described it as a feeling of pressure, which radiated to her neck and was aggravated by swallowing, talking, and lying prone. She also described it as though there was "something stuck in her throat." She was treated with a proton-pump inhibitor for 1 month without relief.

Her past history was significant for squamous cell carcinoma on her nose, which was treated with a Mohs surgical procedure 9 years ago, and an atypical nevus on her arm, which was excised 6 years ago. She had a history of smoking 1 pack of cigarettes per day for several years.

Her physical exam was unremarkable, with no evidence of any cutaneous or ocular lesions. Her routine blood work, chest x-ray film, electrocardiogram, and stress test did not show any significant abnormalities. An esophagogastroduodenoscopy (EGD) was performed, which revealed 2 white, fungating masses located at 30 cm and 36 cm from the incisors (Figure 1).

Figure 1.

Endoscopic view of the 2 masses in the esophagus at 30 cm and 36 cm.

Several areas of ulceration were noted. These lesions were biopsied, and the results showed epithelioid and spindle-shaped cells staining positive for S-100 protein and HMB-45 antigen and negative for Pan-K by immunohistochemistry. Thus, a diagnosis of malignant melanoma was made. Following the diagnosis, a positron emission tomography/computed tomography (PET/CT) scan was performed; it showed thickening and moderate-to-intense FDG uptake in the distal esophagus but no metastatic disease (Figure 2).

Figure 2.

PET/CT scan showing increased uptake in the esophagus.

The patient underwent a minimally invasive esophagectomy and had an uneventful postoperative course. She is currently 8 weeks out of surgery and doing well with no recurrence of disease.


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