Compound Clear Cell Sarcoma: A Case Report With Ulceration and Pagetoid Scatter

Shawa, Harrison; Dahle, Sara E.; Schulman, Joshua M.

doi:10.1097/dad.0000000000002238

Cited by 2 publications

(4 citation statements)

References 24 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Microscopic clues and marker studies have limited sensitivity and/or specificity. While most superficial CCS lack an associated intraepidermal growth component and contain wreath‐like giant cells, the latter are not always found in CCS and a rare CCS may colonize the epidermis (so‐called compound CSS) 7,8,14–16 . Both cutaneous melanoma and CCS express melanocyte differentiation antigens, although there is a significant difference in PRAME expression, which may in some settings be a useful diagnostic clue 17 .…”

Section: Discussionmentioning

confidence: 99%

“…While most superficial CCS lack an associated intraepidermal growth component and contain wreath-like giant cells, the latter are not always found in CCS and a rare CCS may colonize the epidermis (so-called compound CSS). 7,8,[14][15][16] Both cutaneous melanoma and CCS express melanocyte differentiation antigens, although there is a significant difference in PRAME expression, which may in some settings be a useful diagnostic clue. 17 Finally, monomorphic tumor cells with negative PRAME and absent melanoma molecular mutations (BRAF, KRAS, or KIT) should raise the possibility of a translocationdriven tumor such as CCS.…”

Section: Discussionmentioning

confidence: 99%

“…As a result of the presence of melanocytic differentiation, the tumor was also at times reported as melanoma of soft parts, 3 and gene expression studies have suggested that it may in fact be regarded as a melanoma of soft tissue derivation 4 . Rare cases of cutaneous CCSs have been documented in literature, and often confound the diagnosis as a result of its location and histopathologic overlap with malignant melanoma 5–12 . Fortunately, the diagnosis of CCS can be reliably made by the identification of EWSR1 (Ewing sarcoma oncogene) fusion with ATF1 (activating transcription factor 1) 2 ; the resulting t(12;22) has not been reported in malignant melanoma.…”

Section: Introductionmentioning

confidence: 99%

“…4 Rare cases of cutaneous CCSs have been documented in literature, and often confound the diagnosis as a result of its location and histopathologic overlap with malignant melanoma. [5][6][7][8][9][10][11][12] Fortunately, the diagnosis of CCS can be reliably made by the identification of EWSR1 (Ewing sarcoma oncogene) fusion with ATF1 (activating transcription factor 1) 2 ; the resulting t(12;22) has not been reported in malignant melanoma.…”

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Compound clear cell sarcoma with EWSR1::CREM fusion

Busam

2023

J Cutan Pathol

View full text Add to dashboard Cite

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.

show abstract

Section: Discussionmentioning

confidence: 99%