Primary malignant melanoma of the esophagus: a rare and aggressive disease

Abstract

Primary malignant melanoma of the esophagus is an uncommon tumor, with approximately 300 cases having been reported thus far. The purpose of this study was to describe a case of a 60 year-old man with a 10 month history of progressive dysphagia and thoracic pain, the investigations of which led to a diagnosis of primary malignant melanoma of the esophagus. The patient underwent a transhiatal esophagectomy with subcarinal lymphadenectomy, and isoperistaltic gastric tube replacement of the esophagus. Nine months after surgery, he developed ischemic colitis, and metastasis in the mesentery was diagnosed. His disease progressed and he died one year after the esophagectomy. A review of the literature was performed.

Amelanotic malignant melanoma of the cervical oesophagus

“…PMME is extremely rare and has been described largely in the Japanese population due to the evidence of a high number of melanocytes in the oesophagus in that population 2 4 9. Male-to-female ratio is 2:1 and it has been classically seen in the 6th and 7th decades of life 1 2 4 7 8. The migration of neural crest cells to the middle and lower third of the oesophagus classically accounts for the presence of PMME in this location1 2 7 8; however, there have been reports of PMME in the upper third of the oesophagus 10.…”

“…Male-to-female ratio is 2:1 and it has been classically seen in the 6th and 7th decades of life 1 2 4 7 8. The migration of neural crest cells to the middle and lower third of the oesophagus classically accounts for the presence of PMME in this location1 2 7 8; however, there have been reports of PMME in the upper third of the oesophagus 10. In our case, we had a young lady presenting to us with an amelanotic variant of PMME in the proximal one-third of the oesophagus.…”

“…It has been found that melanoblasts originate and further differentiate into melanocytes in the oesophageal wall after migrating from the neural crest cells 1 2 4 8. The role of NRAS and BRAF mutations with the presence of KIT and PDGFRA gene has been demonstrated in the pathogenesis of PMME 11.…”

“…Presentation is usually late with poor prognosis despite advances in treatment modalities 1. Three hundred and thirty-seven cases of PMME have been reported in the world literature till 2011 8. We present a case of an amelanotic variant of malignant melanoma of the upper one-third of the oesophagus in a young woman with rapid progression of the disease with eventual mortality and the review of literature regarding the malignancy and its management.…”

“…The first case of primary malignant melanoma of the oesophagus (PMME) was reported by Garfinkle and Cahan6 in 1952. PMME is commonly seen in the elderly and usually in the distal oesophagus 1 2 4 7 8. Presentation is usually late with poor prognosis despite advances in treatment modalities 1.…”