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Superficial paramucosal clear cell sarcoma of the soft parts resembling melanoma in a 13-year-old boy

Authors

  • Michael Sidiropoulos,

    1. Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA
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  • Klaus Busam,

    1. Department of Pathology, Memorial Sloan-Kettering Cancer Center, New York, NY, USA
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  • Joan Guitart,

    1. Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA
    2. Robert H. Lurie Cancer Center, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA
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  • William B. Laskin,

    1. Robert H. Lurie Cancer Center, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA
    2. Department of Pathology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA
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  • Annette M. Wagner,

    1. Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA
    2. Division of Dermatology, Children's Memorial Hospital, Northwestern University, Chicago, IL, USA
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  • Pedram Gerami

    Corresponding author
    1. Robert H. Lurie Cancer Center, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA
    • Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA
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Pedram Gerami,

Department of Dermatology, Feinberg School of

Medicine, Northwestern University, 676 North

Saint Claire Street, Suite 1600, Room 1765;

Chicago, IL 60611, USA

Tel: +312 695-1413

Fax: +312 695-0007

e-mail: pgerami@nmff.org

Abstract

Clear cell sarcoma (CCS) of tendons and aponeuroses, also known as melanoma of soft parts, represents an aggressive rare malignancy that is characterized by a nested or fascicular pattern of spindled cells and a pathognomonic reciprocal translocation, t(12;22)(q13;q12), that results in the fusion of EWSR1 and ATF1 genes. Numerous recent studies have recognized the importance of a cutaneous CCS variant that can mimic a broad spectrum of entities, including spindle cell melanoma, spindle cell squamous carcinoma, cutaneous leiomyosarcoma and atypical fibroxanthoma. We report a case of a 13-year-old boy with cutaneous CCS who presented with a few months history of an asymptomatic papule on the lower lip that was suggestive of a mucocele. Biopsy of the lesion showed a wedge shaped neoplasm arranged in nests and fascicles of epithelioid- to oval-shaped cells with pale cytoplasm, open chromatin and prominent nucleolus. The superficial component was closely opposed to the basal epithelium resembling the junctional nests of a melanocytic neoplasm. The process extended into and involved the striated muscle of the lip. The cells expressed S-100, CD99 and synaptophysin by immunohistochemistry, and there was focal HMB-45 and microphthalmia transcription factor (MiTF) positivity as well. Fluorescence in situ hybridization confirmed the presence of the t(12;22) (ESWR1-ATF1) translocation.

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