Superficial Clear Cell Sarcoma (Melanoma of Soft Parts) of the Large toe in an 80-Year-Old Female With a Rare Cytogenetic Translocation

Regina Zambrano,Emily R Davis,John Moesch,Richard Miller,Michael R Heaphy

doi:10.7759/cureus.11719

Abstract

We present a case of clear cell sarcoma (CCS) on the left large toe of an 80-year-old female. CCS, also known as “melanoma of soft parts,” is a rare soft tissue neoplasm that exhibits melanocytic differentiation. Most cases occur on the distal extremities of young female adults. CCS shares histopathologic and immunohistochemical features with malignant melanoma that cause diagnostic difficulties distinguishing between these entities; therefore, cytogenetic studies of specific translocations are paramount in obtaining the correct diagnosis. The majority of CCS cases reveal a t(12;22)(q13;q12) EWSR1/ATF1 translocation, while a rare subset of CCS demonstrate a t(2;22) (q32:q12) EWS/CREB1 translocation. Our patient presented with a 50-year history of a nodule on the dorsum of her left large toe, with increasing size and tenderness over the past nine months. Histopathology and immunoperoxidase staining indicated CCS as a differential diagnosis. Cytogenetic analysis revealed a translocation in t(2;22) (q32;q12) resulting in the EWSR1/CREB1 gene, confirming a diagnosis of CCS. The translocation, histologic location, and long-standing clinical course exhibited in this case are exceptionally rare, and we hope to inform dermatologists of an uncommon presentation of CCS in an unexpected age group.

Highlights

We present a case of clear cell sarcoma (CCS) on the left large toe of an 80-year-old female
CCS shares histopathologic and immunohistochemical features with malignant melanoma that cause diagnostic difficulties distinguishing between these entities; cytogenetic studies of specific translocations are paramount in obtaining the correct diagnosis
Clear cell sarcoma (CCS), referred to as “melanoma of soft parts,” is a rare, malignant soft tissue neoplasm that mimics the immunohistochemical profile of cutaneous malignant melanoma [1]

Summary

Introduction

Clear cell sarcoma (CCS), referred to as “melanoma of soft parts,” is a rare, malignant soft tissue neoplasm that mimics the immunohistochemical profile of cutaneous malignant melanoma [1]. CCS accounts for only 1% of soft tissue sarcomas. CCS typically presents as a slow-growing, deep-seated nodular mass that has a predilection for tendons and aponeuroses of the distal extremities on young female adults. CCS displays positive immunohistochemical expression of typical melanocytic markers, such as S-100 protein, HMB-45, Melan-A, and MITF, leading many to consider this entity a unique subset of melanoma [3,4]. We present a unique case of superficial CCS in an elderly female arising in a lesion that had been present on the left toe for many years

Objectives

Discussion

Conclusion