Primary malignant melanoma of the esophagus

A 75-year-old Caucasian man was referred to his local hospital complaining of a 2-month history of dysphagia. Esophagogastroduodenoscopy (EGD) demonstrated widespread mucosal hyperpigmented plaques throughout the esophagus. An exophytic esophageal lesion was also visualized in the mid to distal esophagus ([Fig. 1]). Biopsies of the exophytic lesion revealed findings consistent with primary malignant melanoma of the esophagus.

Fig. 1 Endoscopic appearance of mid to lower esophagus in a 75-year-old Caucasian man complaining of a 2-month history of dysphagia; a white-light endoscopy revealing background hyperpigmented mucosal plaques; b visible exophytic tumor; c, d background mucosal plaques and exophytic tumor using i-Scan technology (PENTAX HOYA, Japan).

Positron emission tomography-computed tomography (PET-CT) demonstrated no evidence of metastases. A skin survey found no evidence of cutaneous melanoma. The patient underwent surgical resection with a three-stage esophagectomy. Histopathology of the esophagectomy specimen ([Fig. 2]) demonstrated a 70-mm tumor with abundant melanin and with a maximum depth of penetration of 9.5 mm. Immunohistochemistry of tumor cells was positive for Human Melanoma Black-45 (HMB-45) ([Fig. 2 d]), and Melan A ([Fig. 2 c]). Resection margins were free from malignant tissue as were 19 resected lymph nodes. TNM7 classification was T1bN0M0. Postoperative recovery was complicated by a superior mesenteric artery thrombus and ischemic bowel necessitating emergency small-bowel resection, right hemicolectomy, and defunctioning jejunostomy. Following 5 months of total parenteral nutrition, reversal of jejunostomy was done without complication. The patient is now living independently in the community, without parenteral nutrition.

Fig. 2 a Histological section of the resected tumor specimen. b Histological section revealing abundant melanin. c Immunohistochemical staining demonstrating Melan A. d Human Melanoma Black-45 (HMB-45) highlighting the in situ component of the malignant melanoma.

Primary malignant melanoma of the esophagus accounts for less than 0.1 % of all primary esophageal malignancies [1]. It presents similarly to other esophageal malignancies with most patients reporting dysphagia or weight loss [2].

Mean age at diagnosis is 60.5 years and it is twice as common in men as in women [3]. No other predisposing factors have been identified although benign esophageal melanosis is considered to be premalignant [3]. Prognosis is poor compared with other esophageal malignancies with 5-year survival of just 2.2 %, one-sixth that of esophageal adenocarcinoma [4]. Surgical resection is the treatment of choice; however even with this intervention, mean survival is just 14.8 months with a 5-year survival rate of only 4 % [2].

Recent development of BRAF inhibitors has led to improvement in outcomes in the treatment of metastatic melanoma in patients with BRAF mutation; however its efficacy in primary malignant melanoma of the esophagus is unproven [5]. Adjuvant or neoadjuvant chemoradiotherapy has also been used but again is unproven [6]. In summary, we describe the case of a patient with primary malignant melanoma of the esophagus treated with a successful radical surgical resection.

Endoscopy_UCTN_Code_CCL_1AB_2AC_3AB

• References

• 1 Volpin E, Sauvanet A, Couvelard A et al. Primary malignant melanoma of the esophagus: a case report and review of the literature. Dis Esophagus 2002; 15: 244-249
• 2 Morita FHA, Ribeiro U, Sallum RAA et al. Primary malignant melanoma of the esophagus: a rare and aggressive disease. World J Surg Oncol 2013; 11: 210
• 3 Iwanuma Y, Tomita N, Amano T et al. Status of primary malignant melanoma of the esophagus: clinical features, pathology, management and prognosis. J Gastroenterol 2012; 47: 21-28
• 4 Leong QM, Kam JH. Primary malignant melanoma of the lower oesophagus presenting with dysphagia and upper gastrointestinal bleeding. Cases J 2008; 1: 28
• 5 Chapman PB, Hauschild A, Robert C et al. Improved survival with vemurafenib in melanoma with BRAF V600E mutation. N Engl J Med 2011; 364: 2507-2516
• 6 Kelly J, Leader M, Broe P. Primary malignant melanoma of the oesophagus: a case report. J Med Case Rep 2007; 1: 50