Ocular PEComas are frequently melanotic and TFE3-translocated: report of two cases including the first description of PRCC-TFE3 fusion in PEComa.
Adolescent
Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
/ genetics
Biomarkers, Tumor
/ analysis
Cell Cycle Proteins
/ genetics
Choroid Neoplasms
/ chemistry
Eye Neoplasms
/ chemistry
Female
Gene Fusion
Humans
Immunohistochemistry
In Situ Hybridization, Fluorescence
Lacrimal Apparatus Diseases
/ genetics
Male
Melanins
/ analysis
Neoplasm Proteins
/ genetics
Perivascular Epithelioid Cell Neoplasms
/ chemistry
RNA-Seq
Young Adult
Ocular
PEComa
PRCC-TFE3
RNA seq
TFE3
Journal
Virchows Archiv : an international journal of pathology
ISSN: 1432-2307
Titre abrégé: Virchows Arch
Pays: Germany
ID NLM: 9423843
Informations de publication
Date de publication:
May 2021
May 2021
Historique:
received:
26
05
2020
accepted:
07
07
2020
revised:
28
06
2020
pubmed:
18
7
2020
medline:
18
5
2021
entrez:
18
7
2020
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 32676967
doi: 10.1007/s00428-020-02890-w
pii: 10.1007/s00428-020-02890-w
doi:
Substances chimiques
Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
0
Biomarkers, Tumor
0
Cell Cycle Proteins
0
Melanins
0
Neoplasm Proteins
0
PRCC protein, human
0
TFE3 protein, human
0
Types de publication
Case Reports
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
1025-1031Subventions
Organisme : Fujian Provincial Department of Science and Technology
ID : 2018Y2003 and 2019L3017
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