Orbital TFE3-Rearranged Perivascular Epithelioid Cell Tumor: A Case Report and Review of the Literature

Abstract

Perivascular epithelioid cell tumors (PEComas) are infrequent mesenchymal neoplasms that have particular histological and immunohistochemical features. Only a few cases have been described in the eye and orbit. This report presents a 28-year-old man who consulted for a painless left orbital mass. With the presumptive diagnosis of cavernous hemangioma, a surgical excisional biopsy was performed. Histopathological examination showed a well-delimited tumor composed of epithelioid cells with an eosinophilic cytoplasm and oval nucleus. The tumor cells stained diffusely for HMB-45 and transcription factor E3 (TFE3) and were focally positive for actin. There was no reactivity to S100 or desmin. Genetic testing revealed a TFE3 rearrangement. Based on these results, an extremely rare orbital TFE3-rearranged PEComa was diagnosed. Although no recurrence was seen at last follow-up, a review of the literature shows experience is limited regarding orbital PEComas and their malignant potential. Further research is needed to establish management guidelines, their association with the tuberous sclerosis complex, and the role of genetic mutations such as TFE3 rearrangement.

Orbital Perivascular Epithelioid Cell Tumor in a Case of Tuberous Sclerosis

“…The association between orbital PEComa and TSC is rarely and poorly reported in the literature. Moreover, only a few cases of PEComa and their malignant potential have been described in the eye and orbit [12, 13]. Nair et al [12] and Feu-Basilio et al [13] reported a case of 9-year-old child with large orbital PEComa and 28 years old man with extremely rare orbital TFE3-rearranged PEComa, respectively, with no signs or family history of tuberous sclerosis.…”

“…Moreover, only a few cases of PEComa and their malignant potential have been described in the eye and orbit [12, 13]. Nair et al [12] and Feu-Basilio et al [13] reported a case of 9-year-old child with large orbital PEComa and 28 years old man with extremely rare orbital TFE3-rearranged PEComa, respectively, with no signs or family history of tuberous sclerosis. Another case was reported of 54 years old male with a slowly progressing painless mass of the right temporal lower lid diagnosed as begin PEComa with no history of TSC [14].…”

Conjunctival Perivascular Epithelioid Cell Neoplasm With RBM10-TFE3 Fusion Presenting as Recurrent Subconjunctival Hemorrhage

“…In the 15 reported cases, 8 were found in the orbital soft tissue, 5 in intraocular structures, 1 in the eyelid, and 1 in the subconjunctiva; to our knowledge, this is the first reported case of a PEComa located in the fornix. 4,[6][7][8] The diagnosis of PEComa is typically based on histopathological and immunohistochemical features of epithelioid and spindle cells in nested, fascicular, or sheet-like growth patterns with melanocytic and myoid marker expression without cytokeratin or S-100 expression. 6 HMB-45 and melan-A/melanomaassociated antigen recognized by T cells 1 expression, which were seen in this patient's mass, are among the most sensitive melanocytic markers for the diagnosis of PEComa.…”

“…4 The categorization of RMS in subtypes has changed over the years and is currently based on clinicopathological features and genetic differences. 6,7 The most common subtype is embryonal, which accounts for about 60% to 70% of cases in children less than 10 years of age. 3 This subtype is most common in the head and neck region and genitourinary tract, 2 and accounts for about 70% of orbital RMS.…”

Ocular transcription factor E3‐associated perivascular epithelioid cell tumor in children: Case report and review of the literature

“…In ocular PEComa, only the first two have been reported. Adults with NONO-TFE3 8,16 were found to have two cases of ocular PEComa. Gao et al 8…”