Clear Cell Carcinoma in the Oral Cavity with Three Novel Types of EWSR1-ATF1 Translocation: A Case Report

Head and Neck Pathology(2021)

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摘要
Clear cell carcinoma (CCC) is a rare epithelial malignant tumor of the salivary glands. It is characterized by tumor cells with clear cytoplasm, hyalinized stroma, and most importantly the fusion genes EWSR1 - ATF1 , EWSR1-CREM , and EWSR1-PLAG1 . Break-apart FISH has been performed for multiple CCC cases, but direct sequencing analysis has been performed in relatively few. Herein, we report an interesting case of CCC harboring three EWSR1-ATF1 translocations: EWSR1 exon 8-ATF1 exon 4 , EWSR1 exon 7-ATF1 exon 4 , and EWSR1 exon 7-ATF1 exon 5 . This case indicates the possibility of independent EWSR1-ATF1 gene translocations, and could provide insight into CCC tumorgenesis.
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关键词
Clear cell carcinoma, Hyalinizing clear cell carcinoma, Salivary duct tumor, EWSR1, ATF1
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