An orbital perivascular epithelioid cell tumor (PEComa) in a 9-year-old boy: Case report and review of the literature

被引:0
作者
Bouzid, N. [1 ]
Bugada, M. [2 ]
Pissaloux, D. [2 ]
Burillon, C. [1 ]
Tirode, F. [2 ]
Barbier, J. [1 ]
de la Fouchardiere, A. [2 ]
Kielwasser, G. [1 ]
机构
[1] Univ Claude Bernard Lyon 1, Hop Edouard Herriot, Hosp Civils Lyon, Serv Ophtalmol, Lyon, France
[2] Ctr Leon Berard, Dept Biopathol, Lyon, France
来源
JOURNAL FRANCAIS D OPHTALMOLOGIE | 2024年 / 47卷 / 07期
关键词
Orbit; Perivascular epithelioid cell tumor; TFE3 gene rearrangement;
D O I
10.1016/j.jfo.2024.104215
中图分类号
R77 [眼科学];
学科分类号
100212 ;
摘要
Perivascular epithelioid cell tumors (PEComas) are a family of benign neoplasms characterized by smooth muscle and melanocytic differentiation. Orbital cases are rare. A 9year-old male presented with a slowly growing orbital mass. Magnetic resonance imaging (MRI) revealed a well-defined orbital mass without intracranial extension. The microscopic appearance of the complete resection specimen showed large nests of epithelioid cells with wide cytoplasm containing melanin pigment and round to oval nuclei with mild cytonuclear atypia and low mitotic activity. Immunohistochemistry was positive for HMB45 and negative for melanA, smooth muscle actin, desmin and S-100 protein. Pangenomic RNA-sequencing identified an in- frame NONO-TFE3 rearrangement, and clustering data showed that the tumor's gene expression profile was grouped with other previously studied PEComas. A diagnosis of orbital pigmented PEComa with uncertain malignant potential associated with a NONO-TFE3 rearrangement was made. There was no recurrence after 1 year of follow-up. (c) 2024 Elsevier Masson SAS. All rights are reserved, including those for text and data mining, AI training, and similar technologies.
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页数:5
相关论文
共 17 条
[1]   Dichotomy of Genetic Abnormalities in PEComas With Therapeutic Implications [J].
Agaram, Narasimhan P. ;
Sung, Yun-Shao ;
Zhang, Lei ;
Chen, Chun-Liang ;
Chen, Hsiao-Wei ;
Singer, Samuel ;
Dickson, Mark A. ;
Berger, Michael F. ;
Antonescu, Cristina R. .
AMERICAN JOURNAL OF SURGICAL PATHOLOGY, 2015, 39 (06) :813-825
[2]   Malignant perivascular epithelioid cell tumor of the orbit: Report of a case and review of literature [J].
Alam, Md. Shahid ;
Mukherjee, Bipasha ;
Krishnakumar, S. ;
Biswas, Jyotirmay .
INDIAN JOURNAL OF OPHTHALMOLOGY, 2017, 65 (09) :889-891
[3]  
Argani P, 2016, AM J SURG PATHOL, V40, P723, DOI 10.1097/PAS.0000000000000631
[4]   Orbital TFE3-Rearranged Perivascular Epithelioid Cell Tumor: A Case Report and Review of the Literature [J].
Feu-Basilio, Silvia ;
Matas, Jessica ;
Dotti-Boada, Marina ;
Toll, Agustin ;
Larque, Ana-Belen ;
Pigem, Ramon ;
Ortiz-Perez, Santiago .
AMERICAN JOURNAL OF DERMATOPATHOLOGY, 2021, 43 (12) :E263-E266
[5]   Perivascular epithelioid cell neoplasms: pathology and pathogenesis [J].
Folpe, Andrew L. ;
Kwiatkowski, David J. .
HUMAN PATHOLOGY, 2010, 41 (01) :1-15
[6]   Ocular perivascular epithelioid cell tumor: report of 2 cases with distinct clinical presentations [J].
Furusato, Emiko ;
Cameron, J. Douglas ;
Newsom, Roger W. ;
Fujishiro, Takashi ;
Kojima, Takayoshi ;
Specht, Charles S. ;
Fetsch, John F. ;
Furusato, Bungo ;
Sesterhenn, Isabell A. ;
Rushing, Elisabeth J. .
HUMAN PATHOLOGY, 2010, 41 (05) :768-772
[7]   Ocular PEComas are frequently melanotic andTFE3-translocated: report of two cases including the first description ofPRCC-TFE3fusion in PEComa [J].
Gao, Y. ;
Chen, G. ;
Chow, C. ;
Io, I. ;
Wong, E. W. N. ;
Tsui, W. M. S. ;
Lam, W. Y. ;
To, K. F. ;
Chan, J. K. C. ;
Cheuk, Wah .
VIRCHOWS ARCHIV, 2021, 478 (05) :1025-1031
[8]   Perivascular Epithelioid Cell Tumor Arising from Ciliary Body Treated by Local Resection [J].
Goto, Hiroshi ;
Usui, Yoshihiko ;
Nagao, Toshitaka .
OCULAR ONCOLOGY AND PATHOLOGY, 2015, 1 (02) :88-92
[9]   Perivascular epithelioid cell tumor of the orbit [J].
Guthoff, Rainer ;
Guthoff, Tanja ;
Mueller-Hermelink, Hans K. ;
Sold-Darseff, Johanna ;
Geissinger, Eva .
ARCHIVES OF OPHTHALMOLOGY, 2008, 126 (07) :1009-1011
[10]   Perivascular epithelioid cell tumor of the orbit: A case report and review of the literature [J].
Iyengar, P ;
DeAngelis, DD ;
Greenberg, M ;
Taylor, G .
PEDIATRIC AND DEVELOPMENTAL PATHOLOGY, 2005, 8 (01) :98-104