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

Pediatric Blood & CancerEarly View e30524 LETTER TO THE EDITOR Ocular transcription factor E3-associated perivascular epithelioid cell tumor in children: Case report and review of the literature Jia-Qi Lin, Jia-Qi Lin orcid.org/0000-0001-7254-1293 Tianjin Key Laboratory of Retinal Functions and Diseases, Tianjin Branch of National Clinical Research Center for Ocular Disease, Eye Institute and School of Optometry, Tianjin Medical University Eye Hospital, Tianjin, ChinaSearch for more papers by this authorXun Liu, Xun Liu Tianjin Key Laboratory of Retinal Functions and Diseases, Tianjin Branch of National Clinical Research Center for Ocular Disease, Eye Institute and School of Optometry, Tianjin Medical University Eye Hospital, Tianjin, ChinaSearch for more papers by this authorJin-Zhi Zhao, Jin-Zhi Zhao Tianjin Key Laboratory of Retinal Functions and Diseases, Tianjin Branch of National Clinical Research Center for Ocular Disease, Eye Institute and School of Optometry, Tianjin Medical University Eye Hospital, Tianjin, ChinaSearch for more papers by this authorLi-Min Zhu, Corresponding Author Li-Min Zhu [email protected] Tianjin Key Laboratory of Retinal Functions and Diseases, Tianjin Branch of National Clinical Research Center for Ocular Disease, Eye Institute and School of Optometry, Tianjin Medical University Eye Hospital, Tianjin, China Correspondence Ting-Ting Lin and Li-Min Zhu, Tianjin Key Laboratory of Retinal Functions and Diseases, Tianjin Branch of National Clinical Research Center for Ocular Disease, Eye Institute and School of Optometry, Tianjin Medical University Eye Hospital, Tianjin, China. Email: [email protected]; [email protected]Search for more papers by this authorTing-Ting Lin, Corresponding Author Ting-Ting Lin [email protected] Tianjin Key Laboratory of Retinal Functions and Diseases, Tianjin Branch of National Clinical Research Center for Ocular Disease, Eye Institute and School of Optometry, Tianjin Medical University Eye Hospital, Tianjin, China Correspondence Ting-Ting Lin and Li-Min Zhu, Tianjin Key Laboratory of Retinal Functions and Diseases, Tianjin Branch of National Clinical Research Center for Ocular Disease, Eye Institute and School of Optometry, Tianjin Medical University Eye Hospital, Tianjin, China. Email: [email protected]; [email protected]Search for more papers by this author Jia-Qi Lin, Jia-Qi Lin orcid.org/0000-0001-7254-1293 Tianjin Key Laboratory of Retinal Functions and Diseases, Tianjin Branch of National Clinical Research Center for Ocular Disease, Eye Institute and School of Optometry, Tianjin Medical University Eye Hospital, Tianjin, ChinaSearch for more papers by this authorXun Liu, Xun Liu Tianjin Key Laboratory of Retinal Functions and Diseases, Tianjin Branch of National Clinical Research Center for Ocular Disease, Eye Institute and School of Optometry, Tianjin Medical University Eye Hospital, Tianjin, ChinaSearch for more papers by this authorJin-Zhi Zhao, Jin-Zhi Zhao Tianjin Key Laboratory of Retinal Functions and Diseases, Tianjin Branch of National Clinical Research Center for Ocular Disease, Eye Institute and School of Optometry, Tianjin Medical University Eye Hospital, Tianjin, ChinaSearch for more papers by this authorLi-Min Zhu, Corresponding Author Li-Min Zhu [email protected] Tianjin Key Laboratory of Retinal Functions and Diseases, Tianjin Branch of National Clinical Research Center for Ocular Disease, Eye Institute and School of Optometry, Tianjin Medical University Eye Hospital, Tianjin, China Correspondence Ting-Ting Lin and Li-Min Zhu, Tianjin Key Laboratory of Retinal Functions and Diseases, Tianjin Branch of National Clinical Research Center for Ocular Disease, Eye Institute and School of Optometry, Tianjin Medical University Eye Hospital, Tianjin, China. Email: [email protected]; [email protected]Search for more papers by this authorTing-Ting Lin, Corresponding Author Ting-Ting Lin [email protected] Tianjin Key Laboratory of Retinal Functions and Diseases, Tianjin Branch of National Clinical Research Center for Ocular Disease, Eye Institute and School of Optometry, Tianjin Medical University Eye Hospital, Tianjin, China Correspondence Ting-Ting Lin and Li-Min Zhu, Tianjin Key Laboratory of Retinal Functions and Diseases, Tianjin Branch of National Clinical Research Center for Ocular Disease, Eye Institute and School of Optometry, Tianjin Medical University Eye Hospital, Tianjin, China. Email: [email protected]; [email protected]Search for more papers by this author First published: 25 June 2023 https://doi.org/10.1002/pbc.30524Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat REFERENCES 1Iyengar P, DeAngelis DD, Greenberg M, Taylor G. Perivascular epithelioid cell tumor of the orbit: a case report and review of the literature. Pediatr Dev Pathol. 2005; 8(1): 98-104. 2Furusato E, Cameron JD, Newsom RW, et al. Ocular perivascular epithelioid cell tumor: report of 2 cases with distinct clinical presentations. Hum Pathol. 2010; 41(5): 768-772. 3Goto H, Usui Y, Nagao T. Perivascular epithelioid cell tumor arising from ciliary body treated by local resection. Ocul Oncol Pathol. 2015; 1(2): 88-92. 4Alam MS, Mukherjee B, Krishnakumar S, Biswas J. Malignant perivascular epithelioid. Indian J Ophthalmol. 2017; 65: 889-891. 5Varan A, Bayhan T, Kiratli H, et al. An orbital perivascular epithelioid cell tumor in a 7-year-old boy: case report and review of the literature. J AAPOS. 2017; 21(4): 325-328.e1. 6Nair AG, Gore SS, Ganvir AY, et al. Giant perivascular epithelioid cell tumor of the orbit: a clinicopathological analysis and review of the literature. Ocul Oncol Pathol. 2018; 4(5): 272-279. 7Lei L, Wang YQ, Chen S, et al. Orbital PEComa in a child 1 case. J Diag Pathol. 2018; 25(11): 790-791. 8Gao Y, Chen G, Chen G, et al. 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; 478(5): 1025-1031. 9Folpe AL, Mentzel T, Lehr HA, Fisher C, Balzer BL, Weiss SW. Perivascular epithelioid cell neoplasms of soft tissue and gynecologic origin: a clinicopathologic study of 26 cases and review of the literature. Am J Surg Pathol. 2005; 29(12): 1558-1575. 10Rafizadeh SM, Cheraqpour K, Amoli FA, Haydar AA. Alveolar soft part sarcoma of the superior rectus muscle: case report and review of literature. Am J Ophthalmol Case Rep. 2022; 27(3):101645. 11Argani P, Aulmann S, Illei PB, et al. A distinctive subset of PEComas harbors TFE3 gene fusions. Am J Surg Pathol. 2010; 34(10): 1395-1406. 12Ladanyi M, Lui MY, Antonescu CR, et al. The der(17)t(X;17)(p11;q25) of human alveolar soft part sarcoma fuses the TFE3 transcription factor gene to ASPL, a novel gene at 17q25. Oncogene. 2001; 20(1): 48-57. 13Mitamura M, Kase S, Suzuki Y, et al. Solitary fibrous tumor of the orbit: a clinicopathologic study of two cases with review of the literature. In Vivo. 2020; 34(6): 3649-3654. 14Rao Q, Shen Q, Xia Q, et al. PSF/SFPQ is a very common gene fusion partner in TFE3 rearrangement-associated perivascular epithelioid cell tumors (PEComas) and melanotic Xp11 translocation renal cancers: clinicopathologic, immunohistochemical, and molecular characteristics suggesting classification as a distinct entity. Am J Surg Pathol. 2015; 39(9): 1181-1196. 15Agaram NP, Sung YS, Zhang L, et al. Dichotomy of genetic abnormalities in PEComas with therapeutic implications. Am J Surg Pathol. 2015; 39(6): 813-825. 16Feu-Basilio S, Matas J, Matas J, et al. Orbital TFE3-rearranged perivascular epithelioid cell tumor: a case report and review of the literature. Am J Dermatopath. 2021; 43(12): e263-e266. 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