Extracutaneous malignant melanomas

Extracutaneous malignant melanomas are rare tumors with vexing clinical presentation and grim prognosis. Only 4%-5% of all primary melanomas do not arise from the skin. These tumors are almost uniformly fatal, even in 2006. Although a fairly good number of these lesions were reported in the literature, the lack of a side-by-side analysis of these studies has resulted in tentative conclusions that merely offer a first glimpse at the clinicopathologic diversity of these lesions. To remedy this issue, this article took an aim at presenting a literature review concerning extracutaneous malignant melanomas. It also reports several cases of extracutaneous melanomas, which I came across in my 15 years of surgical and molecular pathology practice. The study raises several notions. Extracutaneous malignant melanomas are rare but extremely aggressive lesions with a grim outcome. They include ocular, metastatic, anorectal, mucosal, nail beds, conjunctival, vaginal, urogenital, orbital, esophageal, and leptomeningial malignant melanomas. The development of these lesions lacks an association with sun damage, family history, or precursor nevi. These lesions cause considerable diagnostic consternation and their distinction from other types of tumors (such as undifferentiated carcinomas, high-grade sarcomas, and lymphomas) is critical both from a diagnostic and prognostic point of view. In the proper clinical, histological, and cytological context, immunopositivity for S100 protein, HMB45, and vimentin allows the distinction of these malignant melanomas from other histologically similar malignancies. To conclude, extracutaneous melanoma should be considered while undifferentiated neoplasms, especially those displaying prominent eosinophilic nucleoli, and the coexistence of epithelioid and spindle cells. Special staining and immunohistochemistry should be resorted to establish the diagnosis.