Nael Haddad, MD1, Bridgette B. McNally, DO2, Mohanad T. Al-Qaisi, MD3, Kelly Zucker, DO2, Angiela Sivakumar, MD2, Sakolwan Suchartlikitwong, MD2, Mahmoud Bayoumi, MD, MPH2, Paul Muna Aguon, MD2, Natalee Sansone, MD2 1University of Arizona, Phoenix, AZ; 2University of Arizona College of Medicine, Phoenix, AZ; 3University of Arizona, College of Medicine Phoenix, Phoenix, AZ
Introduction: Squamous cell carcinoma (SCC) and adenocarcinoma account for over 95% of esophageal malignant tumors. Primary Malignant Melanoma of the esophagus (PMME) is extremely rare with just over 300 cases described in literature. We present a patient diagnosed with PMME after presenting with worsening heartburn
Case Description/Methods: 52-year-old Caucasian male with past medical history of compensated alcoholic cirrhosis presented to our clinic with symptoms of worsening heartburn, odynophagia and 60-pound weight loss over a 6-month period. Due to his age and significant weight loss, he underwent diagnostic EGD for further evaluation of his symptoms. EGD showed a large fungating, ulcerated, partially obstructing mass in the distal esophagus extending to fundus of stomach that was highly suspicious for malignancy (Figure 1, left photo). Biopsies from the mass showed a poorly differentiated malignant neoplasm, most compatible with malignant melanoma. This rare finding prompted the need for a detailed physical exam with focus on skin. Few actinic keratoses were noted but otherwise skin exam was normal. That led to the diagnosis of PMME. Patient underwent whole body PET scan that showed local lymph node involvement without evidence of distant metastases. Because of his poor nutritional status, cirrhosis and local lymph node involvement, surgery was not recommended. He was started on neoadjuvant chemotherapy but due to his overall health condition and poor prognosis, he was transitioned to hospice care and passed away 4 months from the time of diagnosis
Discussion: PMME is a rare tumor accounting for 0.1-0.2% of all primary esophageal malignancies. It is predominately seen in males in their sixth and seventh decade of life. Classic signs and symptoms include dysphagia, abdominal pain and weight loss. Endoscopy usually demonstrates at least one darkly pigmented, polypoid mass in the distal esophagus. Biopsy is associated with ~80% accuracy, thus immunohistochemical analysis is essential to achieve accurate diagnosis. Overall prognosis is poor; median survival of 12 months. It has been shown that deeper invasion of tumor is more likely to be associated with lymph node metastases and TMN staging is an independent predictor of prognosis. Given the aggressive nature of the malignancy, esophageal resection is the preferred method of treatment; however, median survival is only ~34% postoperatively. Further investigation and guidelines on surveillance are needed to help hasten the diagnosis and management of PMME
Figure: Figure 1. Left: Endoscopic image of distal esophageal mass. Right: Esophageal biopsy, 100X, SOX10 immunohistochemistry. Sheets of poorly differentiated malignant cells with diffuse positive immunohistochemical staining for melanocytic marker SOX10. Additional melanocytic markers MART-1 and HMB45 also demonstrated positivity (not pictured)
Nael Haddad indicated no relevant financial relationships.
Bridgette McNally indicated no relevant financial relationships.
Mohanad Al-Qaisi indicated no relevant financial relationships.
Kelly Zucker indicated no relevant financial relationships.
Angiela Sivakumar indicated no relevant financial relationships.
Sakolwan Suchartlikitwong indicated no relevant financial relationships.
Mahmoud Bayoumi indicated no relevant financial relationships.
Paul Muna Aguon indicated no relevant financial relationships.
Natalee Sansone indicated no relevant financial relationships.
Nael Haddad, MD1, Bridgette B. McNally, DO2, Mohanad T. Al-Qaisi, MD3, Kelly Zucker, DO2, Angiela Sivakumar, MD2, Sakolwan Suchartlikitwong, MD2, Mahmoud Bayoumi, MD, MPH2, Paul Muna Aguon, MD2, Natalee Sansone, MD2. P0375 - Primary Malignant Melanoma of Esophagus: A Rare Cause of Esophageal Cancer, ACG 2021 Annual Scientific Meeting Abstracts. Las Vegas, Nevada: American College of Gastroenterology.