Ocular PEComas are frequently melanotic and TFE3-translocated: report of two cases including the first description of PRCC-TFE3 fusion in PEComa

Y Gao; G Chen; C Chow; I Io; E W N Wong; W M S Tsui; W Y Lam; K F To; J K C Chan; Wah Cheuk

doi:10.1007/s00428-020-02890-w

Ocular PEComas are frequently melanotic and TFE3-translocated: report of two cases including the first description of PRCC-TFE3 fusion in PEComa

Virchows Arch. 2021 May;478(5):1025-1031. doi: 10.1007/s00428-020-02890-w. Epub 2020 Jul 16.

Authors

Y Gao¹, G Chen², C Chow³, I Io⁴, E W N Wong⁴, W M S Tsui⁵, W Y Lam¹, K F To³, J K C Chan⁶, Wah Cheuk⁷

Affiliations

¹ Department of Clinical Pathology, Caritas Medical Centre, Sham Shui Po, Hong Kong.
² Department of Pathology, Fujian Medical University Cancer Hospital and Fujian Cancer Hospital Fuzhou, Fuzhou, China.
³ Department of Cellular and Anatomical Pathology, Chinese University of Hong Kong, Hong Kong, Hong Kong.
⁴ Department of Ophthalmology, Caritas Medical Centre, Sham Shui Po, Hong Kong.
⁵ Department of Pathology, Tseung Kwan O Hospital, Tseung Kwan O, Hong Kong.
⁶ Department of Pathology, Queen Elizabeth Hospital, Hong Kong, China.
⁷ Department of Pathology, Queen Elizabeth Hospital, Hong Kong, China. [email protected].

PMID: 32676967
DOI: 10.1007/s00428-020-02890-w

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.

Keywords: Ocular; PEComa; PRCC-TFE3; RNA seq; TFE3.

Publication types

Case Reports
Review

MeSH terms

Adolescent
Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / genetics*
Biomarkers, Tumor / analysis
Biomarkers, Tumor / genetics*
Cell Cycle Proteins / genetics*
Choroid Neoplasms / chemistry
Choroid Neoplasms / genetics*
Choroid Neoplasms / pathology
Choroid Neoplasms / surgery
Eye Neoplasms / chemistry
Eye Neoplasms / genetics*
Eye Neoplasms / pathology
Eye Neoplasms / surgery
Female
Gene Fusion*
Humans
Immunohistochemistry
In Situ Hybridization, Fluorescence
Lacrimal Apparatus Diseases / genetics*
Lacrimal Apparatus Diseases / metabolism
Lacrimal Apparatus Diseases / pathology
Lacrimal Apparatus Diseases / surgery
Male
Melanins / analysis
Neoplasm Proteins / genetics*
Perivascular Epithelioid Cell Neoplasms / chemistry
Perivascular Epithelioid Cell Neoplasms / genetics*
Perivascular Epithelioid Cell Neoplasms / pathology
Perivascular Epithelioid Cell Neoplasms / surgery
RNA-Seq
Young Adult

Substances

Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
Biomarkers, Tumor
Cell Cycle Proteins
Melanins
Neoplasm Proteins
PRCC protein, human
TFE3 protein, human

Grants and funding

2018Y2003 and 2019L3017/Fujian Provincial Department of Science and Technology