Open AccessClear Cell Carcinoma in the Oral Cavity with Three Novel Types of EWSR1-ATF1 Translocation: A Case Report
Author(s) -
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
Publication year - 2021
Publication title -
head and neck pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.801
H-Index - 50
eISSN - 1936-0568
pISSN - 1936-055X
DOI - 10.1007/s12105-021-01356-y
Subject(s) - exon , biology , chromosomal translocation , breakpoint , fusion gene , gene , microbiology and biotechnology , genetics
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.