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| http://dx.doi.org/10.4103/1947-2714.102008 | DOI Listing |
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Genomic Laboratory, Umraniye Training and Research Hospital, University of Health Sciences, Istanbul, Turkey.
Purpose: To report the posterior segment findings in a case with a biallelic frameshift pathogenic variant at chromosome 10 c.616del exon7 p.(His206Thrfs∗61).
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Department of Pathology and Laboratory Medicine, UT Health-McGovern Medical School, Houston, Texas, USA.
Solitary fibrous tumors (SFTs) of the central nervous system (CNS) are rare mesenchymal tumors characterized by a fusion of the NGFI-A-binding protein 2 (NAB2) gene and the signal transducer and activator of transcription 6 (STAT6) gene, immunohistochemically resulting in nuclear expression of STAT6 - an immunohistochemical hallmark essential for diagnosis, as outlined in the fifth edition of the World Health Organization Classification of Tumors. Dedifferentiation, where low-grade tumors transform into high-grade forms, has been observed in SFTs, with documented cases involving sarcomatous or rarely epithelial transformations. We report the first case of a CNS SFT exhibiting "transdedifferentiation" into epithelioid neuroendocrine differentiation.
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Clinical features of midzonal iris pigment epithelial cysts: surprising findings revealed by ultrasound biomicroscopy.
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Department of Ophthalmology, University of Cincinnati College of Medicine, Cincinnati, OH, 45267-0527, USA.
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