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Clear cell sarcomas of the kidney are characterised by BCOR gene abnormalities, including exon 15 internal tandem duplications and BCOR–CCNB3 gene fusion

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Clear cell sarcoma of the kidney (CCSK) is a rare paediatric renal malignant tumour. The majority of CCSKs have internal tandem duplications (ITDs) of the BCOR gene, whereas a minority… Click to show full abstract

Clear cell sarcoma of the kidney (CCSK) is a rare paediatric renal malignant tumour. The majority of CCSKs have internal tandem duplications (ITDs) of the BCOR gene, whereas a minority have the YWHAE–NUTM2 gene fusion. A third ‘double‐negative’ (DN) category comprises CCSKs with neither BCOR ITDs nor YWHAE–NUTM2 fusion. The aim of this study was to characterise 11 histologically diagnosed CCSKs immunohistochemically (with CCND1, BCOR and CCNB3 stains) and genetically.

Keywords: bcor gene; internal tandem; clear cell; fusion; gene; tandem duplications

Journal Title: Histopathology
Year Published: 2018

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