Primary amelanotic melanoma of the esophagus

Abstract

Primary melanoma of the esophagus (PME) is an uncommon malignancy with less than 250 cases reported in the literature. Amelanotic PME is exceedingly rare and accounts for 10-25% of melanomas of the esophagus. A 59-year-old male with a history of mild dysphagia, heartburn, moderate anorexia and weight loss for 1 month is described. Barium swallow examination and videogastroscopy showed a polypoid, ulcerated mass located 30-38 cm from the incisors. No skin or eye melanoma lesions were found. Five biopsy samples were obtained. Histological examinations revealed proliferation of large, loosely cohesive cells of variable shapes and prominent central nucleoli in the deep mucosa. Immunohistochemical findings included positive vimentin, protein S-100, Melan A, and HMB-45, and negative AE1/AE3, CD 17, and desmin. A total transhiatal esophagectomy with high cervical esophagogastric anastomosis was performed. Peritumoral lymph nodes revealed malignant invasion. A diagnosis of primary amelanotic melanoma of the esophagus was made. Fourteen months after diagnosis the patient developed disseminated PME.

Amelanotic malignant melanoma of the esophagus: Report of two cases with immunohistochemical and molecular genetic study of KIT and PDGFRA

“…In fact, it has been frequently misdiagnosed as other sarcomas [1][2][3][4][5][6][7][8][9][10][11][12][13] . Immunohistochemistry of melanoma antigens such as melanosome (HMB45), Malan-A, and S100 protein are mandatory for the diagnosis of amelanotic melanoma.…”

“…Malignant melanoma of the esophagus is therefore a very aggressive tumor, and its prognosis is very poor [1][2][3][4][5][6][7][8][9][10][11][12][13] . In the present study, the prognosis was indeed very poor in both patients.…”

“…In the present study, the prognosis was indeed very poor in both patients. Operation followed by adjuvant chemotherapy and radiation is the best choice of treatment [1][2][3][4][5][6][7][8][9][10][11][12][13] . In the present cases, operation was impossible in one case and was not performed in another case because of the patient's decision not to proceed.…”

“…Primary amelanotic malignant melanoma of the esophagus is extremely rare; only a few case reports have been published in the literature [8][9][10][11][12][13] . Melanoma is a highly aggressive tumor, and NRAS and BRAF mutations are mainly involved in the pathogenesis of melanoma [14,15] .…”

“…Melanoma is a highly aggressive tumor, and NRAS and BRAF mutations are mainly involved in the pathogenesis of melanoma [14,15] . KIT gene, mapped to 4q12, encodes an oncogenic transmembranous receptor tyrosine kinase, KIT, whose ligand is stem cell factor [6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21] . The platelet derived growth factor receptor-α (PDGFRA) gene, also mapped to 4q12, additionally encodes an oncogenic transmembranous receptor tyrosine kinase, PDGFRA [6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21] .…”