Undifferentiated Melanoma Resembling Undifferentiated Round Cell Sarcoma: The Diagnostic Power of Molecular Melanoma Signature

Abstract

Melanomas presenting in primary or metastatic sites with a poorly differentiated histology comprise dedifferentiated (DM) and undifferentiated melanomas (UM), the latter consisting purely of undifferentiated cells and totally lacking immunophenotypic features of melanoma. These entities have a wide morphological spectrum including round cell sarcoma-like features which pose a significant diagnostic challenge. Here we present a case of UM with morphological and immunohistochemical features resembling undifferentiated round cell sarcoma, whose diagnosis could only be established after proper integration of clinical and molecular data. This diagnostically challenging case, fulfilling the previously proposed diagnostic criteria by Agaimy et al, expands the clinicopathological spectrum of DM/UM, highlights the essence of molecular signature, and further emphasizes the importance of patient’s history in any morphological setting.