Compound clear cell sarcoma with EWSR1::CREM fusion Journal Article
| Authors: | Li, P.; Busam, K. |
| Article Title: | Compound clear cell sarcoma with EWSR1::CREM fusion |
| 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. © 2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. |
| Keywords: | adult; genetics; case report; melanoma; skin neoplasms; pathology; tumor antigen; skin tumor; antigens, neoplasm; rna binding protein ews; ewsr1 protein, human; b raf kinase; proto-oncogene proteins b-raf; clear cell sarcoma; sarcoma, clear cell; rna-binding protein ews; acral melanoma; ewsr1; humans; human; female; crem; prame protein, human; melanoma, cutaneous malignant; compound clear cell sarcoma; cyclic amp response element modulator; crem protein, human; cyclic amp responsive element modulator |
| Journal Title: | Journal of Cutaneous Pathology |
| Volume: | 50 |
| Issue: | 12 |
| ISSN: | 0303-6987 |
| Publisher: | John Wiley & Sons |
| Date Published: | 2023-12-01 |
| Start Page: | 1065 |
| End Page: | 1069 |
| Language: | English |
| DOI: | 10.1111/cup.14390 |
| PUBMED: | 36640048 |
| PROVIDER: | scopus |
| DOI/URL: | |
| Notes: | Article -- Source: Scopus |
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