Erschienen in:
12.07.2021 | Case Reports
Clear Cell Carcinoma in the Oral Cavity with Three Novel Types of EWSR1-ATF1 Translocation: A Case Report
verfasst von:
Satoshi Nojima, Masaharu Kohara, Hiroshi Harada, Hitomi Kajikawa, Katsutoshi Hirose, Shin-Ichi Nakatsuka, Yukinobu Nakagawa, Kaori Oya, Yasuo Fukuda, Kazuhide Matsunaga, Narikazu Uzawa, Manabu Fujimoto, Satoru Toyosawa, Eiichi Morii
Erschienen in:
Head and Neck Pathology
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Ausgabe 2/2022
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Abstract
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.