Esophageal melanoma: a systematic review and exploratory recurrence and survival analysis

Abstract

SUMMARY Esophageal melanoma is a rare and poorly described malignancy. We sought to review all available data on the clinicopathological features, management options, and outcomes of patients with esophageal melanoma to guide clinicians working to treat these uncommon tumors. A systematic literature search of the PubMed, Embase, and Cochrane databases was performed. Exploratory recurrence and survival analyses were performed using previously-validated pooled Cox and logistic regression techniques for case reports and case series. Quality assessment of included studies was performed using the tools developed by the Joanna Briggs and the National Heart, Lung, and Blood Institutes. Fifty-nine studies were reviewed. A total of 93 patients with esophageal melanoma were identified. The mean patient age was 61.2 ± 10.6 years. Esophageal melanoma usually developed at the lower esophagus (48.4%). 90.3% of the patients were symptomatic at presentation, with dysphagia being the most common symptom (72%). Esophagectomy was performed in 91.4% of the patients. Postoperatively, 14 patients (15.1%) received adjuvant chemotherapy. Tumor recurrence was seen in 37 patients (39.8%). The median time to recurrence was 6 months. Disease-specific mortality was 43%. All-cause mortality was 46.1%. On multivariable Cox regression, older patient age (hazard ratio [HR] = 0.91, P = 0.008) and higher Melan-A expression (HR = 0.21; P = 0.029) were associated with a significantly lower risk of mortality. Higher S100 levels (HR = 37.4; P = 0.001) were predictive of poor survival. On logistic regression, large, ulcerated, lower esophageal tumors were significantly more likely to recur (P = 0.018, P = 0.013, and P = 0.027 respectively). Esophageal melanoma is a rare malignancy that tends to present with dysphagia. Most surgically-treated patients undergo esophagectomy. Large, ulcerated, lower esophageal lesions recur more frequently. Immunohistochemistry provides prognostic information regarding survival.

Case Report: Primary melanoma of the gastroesophageal junction

“…Most primary gastrointestinal melanomas have been identified in the oral mucosa and anorectal region. PEM is exceedingly rare; less than 200 cases have been reported in the literature 5 , 6 . It is not only considered a rare subtype of primary melanoma but also accounts for an unusual primary gastrointestinal malignancy as PEM represents 0.1% of all primary esophageal tumors 4 .…”

“…To date, no association between PEM and known carcinogens such as alcohol and tobacco have been recognized in the literature. It occurs more frequently in men than women with an average ratio of 2:1 around the 6 th decade of life and has a predilection for the Japanese population 5 . Although melanocytes are mainly skin and choroid bound, Ohashi et al demonstrated in their study that these highly specialized cells can be found in the lower esophagus of up to 8% of healthy Japanese patients 7 .…”

“…Initial evaluation should include upper endoscopy and biopsy followed by review of the tissue’s pathology and immunohistochemical staining to make a diagnosis 9 . These tumors are generally located in the middle and lower esophageal lumen, are polypoid and can measure up to 5 cm 5 , 10 . 70% of these tumors are non-ulcerated and pigmented, while the rest can be amelanotic and necrotic 4 , 5 .…”

“…These tumors are generally located in the middle and lower esophageal lumen, are polypoid and can measure up to 5 cm 5 , 10 . 70% of these tumors are non-ulcerated and pigmented, while the rest can be amelanotic and necrotic 4 , 5 . S-100 is a highly sensitive marker for melanoma; HBM-45, melan-A, MITF and tyrosinase are highly specific markers for this entity 11 .…”

“…Schizas et al analyzed in their study the outcomes following treatment of 93 individuals with PEM. Most patients underwent esophagectomy and patients who received adjuvant chemotherapy or immunotherapy had reduced rates of relapse; however overall survival (OS) was unchanged compared to those who had surgery only 5 , 12 . The choice of systemic therapy was derived from the guidelines to treat primary malignant melanoma during the time the patient was diagnosed.…”