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Case Reports
. 2024 Dec;51(12):954-958.
doi: 10.1111/cup.14712. Epub 2024 Aug 29.

A case of NONO::TFE3 cutaneous epithelioid and spindle cell tumor with local recurrence after complete excision

Joseph S Durgin  1 , Emily H Smith  2 , Paul W Harms  1   3 , Noah A Brown  3 , May P Chan  1   3
Affiliations
Case Reports

A case of NONO::TFE3 cutaneous epithelioid and spindle cell tumor with local recurrence after complete excision

Joseph S Durgin et al. J Cutan Pathol. 2024 Dec.

Abstract

Mesenchymal tumors may display morphologic and immunohistochemical overlap with melanocytic tumors, presenting a pitfall for misdiagnosis. We report a 62-year-old woman who presented with a recurrent dermal and subcutaneous tumor over the Achilles tendon 15 years following complete excision. Both the primary and the recurrent tumors were characterized by nests and sheets of epithelioid and spindle cells with eosinophilic cytoplasm and uniform ovoid nuclei. The tumor was positive for S100, SOX10, HMB45, cathepsin K, and p63 (weak), while negative for Melan-A, MiTF, smooth muscle actin, and desmin. Gene fusion analysis of the recurrent tumor revealed a NONO::TFE3 fusion which has been recently reported in two similar cutaneous cases. Our case highlights the potential of a NONO::TFE3 cutaneous epithelioid and spindle cell tumor to recur after a prolonged disease-free interval without evidence of high-grade transformation or distant metastasis. Our findings support its classification as a cutaneous mesenchymal neoplasm of intermediate malignancy.

Keywords: NONO::TFE3; dermatopathology; gene fusion; melanocytic; soft tissue.

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References

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