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- W4316096399 abstract "Cutaneous clear cell sarcomas may be confused with melanomas as a result of overlapping histopathology and immunohistochemical staining. We report a case of a 41-year-old woman with a purported history of acral melanoma of the great toe. Twenty-one months after excision of the primary tumor, the patient developed a groin mass, diagnosed as metastatic melanoma on excision. Five months later, a biopsy of a lung mass was reported as metastatic melanoma. The patient was referred to our institution for treatment, which prompted molecular testing on the groin metastasis by targeted next-generation sequencing. Molecular testing results revealed TP53 and TERT promoter mutations and the absence of BRAF, KRAS, and KIT mutations; it also revealed an EWSR1::CREM fusion that was confirmed by Archer FusionPlex. The alleged acral melanoma was re-reviewed, showing an invasive amelanotic spindle cell neoplasm in the dermis with neoplastic nests at the dermal-epidermal junction; the tumor cells expressed markers of melanocytic differentiation but were negative for PRAME and BRAF immunohistochemical staining. Molecular testing of the toe and lung metastasis revealed the same EWSR1::CREM fusion. In light of the molecular findings, the diagnosis was revised to a primary acral compound clear cell sarcoma with EWSR1::CREM fusion." @default.
- W4316096399 created "2023-01-14" @default.
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- W4316096399 date "2023-02-03" @default.
- W4316096399 modified "2023-10-01" @default.
- W4316096399 title "Compound clear cell sarcoma with <i>EWSR1::CREM</i> fusion" @default.
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- W4316096399 doi "https://doi.org/10.1111/cup.14390" @default.
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