ABSTRACT
Ocular perivascular epithelioid cell tumor (PEComa) is exceedingly rare. We reported two examples involving the choroid and subconjunctival tissue, respectively, in patients aged 17 and 20 years. Both tumors comprised packets and sheets of large polygonal cells with moderately pleomorphic nuclei and prominent nucleoli, traversed by delicate fibrovascular septa. Melanin pigmentation was present in one case. The tumors showed HMB45 and TFE3 immunoreactivity. TFE3 gene translocation was confirmed by FISH break-apart probes. RNA seq revealed PRCC-TFE3 and NONO-TFE3 fusions, with the former representing the first description of PRCC-TFE3 in PEComa. Critical reappraisal of the reported cases showed that ocular PEComa frequently affected young patents with melanin pigmentation, frequent TFE3 protein expression, and/or TFE3 gene translocation. No recurrence or metastasis was reported after complete excision despite the presence of cytologic atypia.
Subject(s)
Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/genetics , Biomarkers, Tumor/genetics , Cell Cycle Proteins/genetics , Choroid Neoplasms/genetics , Eye Neoplasms/genetics , Gene Fusion , Lacrimal Apparatus Diseases/genetics , Neoplasm Proteins/genetics , Perivascular Epithelioid Cell Neoplasms/genetics , Adolescent , Biomarkers, Tumor/analysis , Choroid Neoplasms/chemistry , Choroid Neoplasms/pathology , Choroid Neoplasms/surgery , Eye Neoplasms/chemistry , Eye Neoplasms/pathology , Eye Neoplasms/surgery , Female , Humans , Immunohistochemistry , In Situ Hybridization, Fluorescence , Lacrimal Apparatus Diseases/metabolism , Lacrimal Apparatus Diseases/pathology , Lacrimal Apparatus Diseases/surgery , Male , Melanins/analysis , Perivascular Epithelioid Cell Neoplasms/chemistry , Perivascular Epithelioid Cell Neoplasms/pathology , Perivascular Epithelioid Cell Neoplasms/surgery , RNA-Seq , Young AdultABSTRACT
Septic metastatic endophthalmitis is a rare but serious disease. Endophthalmitis arising from Klebsiella pneumoniae liver abscess has been reported with diabetes mellitus as a major associated condition, but is rarely seen in patients without diabetes. A non-diabetic patient with liver abscess complained of right eye discomfort and floaters 3 days after admission. Both blood and liver aspirate cultured Klebsiella pneumoniae. The patient was treated initially with systemic and subconjunctival antibiotics followed by intravitreal antibiotics with successful visual salvation. Previous reports from the literature showed poor visual outcome despite treatment and delayed recognition was often the cause. Clinicians should be alert to endophthalmitis whenever a patient with Klebsiella pneumoniae liver abscess complains of ocular symptoms. Urgent ophthalmological assessment should be sought.