Unveiling a Rare Cause of Dysphagia

Area of Science:

• Gastroenterology
• Oncology
• Pathology

Background:

• Malignant melanoma of the esophagus is rare, causing dysphagia in 0.1-0.2% of esophageal neoplasms.
• Gastrointestinal melanomas exhibit greater invasiveness and poorer prognosis than cutaneous melanomas.
• Amelanocytic variants pose diagnostic challenges due to the absence of melanin pigment.

Purpose of the Study:

• To present a case of primary amelanocytic malignant melanoma of the esophagus.
• To emphasize the diagnostic difficulties and importance of immunohistochemistry in amelanocytic melanoma.
• To highlight the atypical endoscopic presentation and advanced disease in this rare condition.

Main Methods:

• Esophagogastroduodenoscopy (EGD) with biopsies for histopathological and immunohistochemical analysis.
• Thoracoabdominopelvic computed tomography and positron emission tomography for staging.
• Multidisciplinary team meeting for treatment planning.

Main Results:

• A 70-year-old woman presented with progressive dysphagia due to an extensive esophageal lesion.
• Initial biopsies were inconclusive; repeat biopsies with immunohistochemistry confirmed amelanocytic malignant melanoma (SOX10+, vimentin+, Melan-A+, HMB45+).
• The neoplasm was deemed unresectable, with palliative treatment proposed.

Conclusions:

• Primary amelanocytic malignant melanoma of the esophagus is exceptionally rare.
• High clinical suspicion and targeted biopsies with immunohistochemistry are vital for diagnosis.
• Atypical endoscopic findings necessitate thorough investigation for rare esophageal malignancies.