“…Similar to systemic PEComa, cutaneous neoplasm consists of an admixture of tumor cells (either epithelioid or spindle or both) and blood vessels (Figs. 6 , 7 ) [ 96 , 98 ]. Fig.…”
Precision dermatology uses individualized dermatologic disease-directed targeted therapy (D 3 T 2 ) for the management of dermatoses and for the evaluation and therapy of cutaneous malignancies. Personalized/precision strategies are based on biomarkers that are most frequently derived from tissue transcriptomic expression or genomic sequencing or from circulating cytokines. For instance, the pathologic diagnosis of a pigmented lesion and determining the prognosis of a malignant melanocytic neoplasm can be enhanced by genomic/transcriptomic analysis. In addition to biopsy, innovative techniques have been developed for
“…Similar to systemic PEComa, cutaneous neoplasm consists of an admixture of tumor cells (either epithelioid or spindle or both) and blood vessels (Figs. 6 , 7 ) [ 96 , 98 ]. Fig.…”
Precision dermatology uses individualized dermatologic disease-directed targeted therapy (D 3 T 2 ) for the management of dermatoses and for the evaluation and therapy of cutaneous malignancies. Personalized/precision strategies are based on biomarkers that are most frequently derived from tissue transcriptomic expression or genomic sequencing or from circulating cytokines. For instance, the pathologic diagnosis of a pigmented lesion and determining the prognosis of a malignant melanocytic neoplasm can be enhanced by genomic/transcriptomic analysis. In addition to biopsy, innovative techniques have been developed for
“…PEComa is a rare tumor of mesenchymal‐derived cells that show both myocytic and melanocytic differentiation 1–11 . These neoplasms belong to a tumor family that includes angiomyolipoma, clear cell sugar tumor of the lung, primary extrapulmonary sugar tumor, lymphangioleiomyomatosis, clear cell myomelanocytic tumor of the falciform ligament/ligament teres, and extracutaneous tumors known simply as PEComa 4,6,13 …”
Section: Discussionmentioning
confidence: 99%
“…The epidermis is uninvolved, and the dermal proliferation may extend to the subcutis. The epithelioid cells surround a thin‐walled, branching vascular network 1,7–11 . There may be spindled cells scattered between the epithelioid cells, and thickened collagen bundles often lie adjacent to the tumor cells 11 …”
Section: Discussionmentioning
confidence: 99%
“…Additionally, the cellular proliferation of melanocytic lesions with clear‐cell change often contains a dermal‐epidermal junctional component, which is not seen in PEComas 10 . Metastatic renal cell carcinoma may also present as a clear‐cell proliferation with a vascular stroma and CD10 positivity, which may also be positive in PEComas; however, it can be differentiated from a PEComa based on PAX‐8, EMA, and RCC positivity and negativity for melanocytic markers 9 . Dermal clear cell mesenchymal neoplasms are dermal proliferations composed of sheets of epithelioid cells with a granular to clear cytoplasm, which may be confused histopathologically for a PEComa, but they do not stain for melanocytic markers, allowing straightforward differentiation 10 .…”
Section: Discussionmentioning
confidence: 99%
“…A perivascular epithelioid cell tumor (PEComa) is a tumor of mesenchymal-derived cells that show both myocytic and melanocytic differentiation. [1][2][3][4][5][6][7][8][9][10][11] PEComas are rare and more commonly present in organs such as the uterus, retroperitoneum, gastrointestinal tract, urinary bladder, prostate, bone, and soft tissues. 1,4 Cutaneous PEComas are even more unusual and represent only around 8% of PEComas.…”
A 77-year-old female presented with a 6-month history of a 2-cm pink exophytic tumor on the right anterior shin, which had grown rapidly and began to bleed over the last 4 weeks. A shave biopsy showed a dermal proliferation of epithelioid spindled cells, arranged in nests and trabeculae associated with thin-walled capillary vessels. The cells showed pleomorphic nuclei with vacuolated nuclear
The NONO::TFE3 fusion has been described in MiT family translocation renal cell carcinomas as well as extracutaneous perivascular epithelioid cell tumors (PEComas). PEComas are known to express myogenic and melanocytic markers but SOX10 and p63 positivity has never been reported. We report two primary cutaneous tumors that morphologically and molecularly fit PEComas, both harboring the NONO::TFE3 fusion, but with an unusual immunophenotype of SOX10 and p63 positivity. One case was on an 80‐year‐old male's finger, and the other one was on a 72‐year‐old female's thigh. Both were well‐circumscribed multinodular dermal tumors composed of nests of monotonous epithelioid to spindled cells with pale to vacuolated cytoplasm, some of which were arranged around blood vessels. Both tumors were positive for SOX10, S100, and p63, focally positive for Melan‐A, and negative for myogenic markers. There are very little data regarding the molecular findings of primary cutaneous PEComas. While the NONO::TFE3 fusion has been identified in extracutaneous PEComas, it has never been reported in primary cutaneous cases. We believe these cases represent a previously undescribed subtype of cutaneous tumor which shows some immunophenotypic expression of melanocytic markers and we named these cases NONO::TFE3 fusion cutaneous epithelioid and spindle cell tumor. Further, we raise the question of whether this tumor should fall under the rubric of PEComa because of its morphology, partial expression of melanocytic markers, and the presence of the NONO::TFE3 fusion, or whether these tumors represent a separate novel class of tumors since the immunophenotypic expression of SOX10 and p63 is unusual for PEComas.
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