TY - JOUR
T1 - Clear cell odontogenic carcinoma
T2 - Occurrence of EWSR1-CREB1 as alternative fusion gene to EWSR1-ATF1
AU - Vogels, R.
AU - Baumhoer, D.
AU - van Gorp, J.
AU - Eijkelenboom, A.
AU - Verdijk, M.
AU - van Cleef, P.
AU - Bloemena, E.
AU - Slootweg, P.J.
AU - Lohman, B.
AU - Debiec-Rychter, M.
AU - Flucke, U.
PY - 2019/6/1
Y1 - 2019/6/1
N2 - Clear cell odontogenic carcinoma (CCOC) is a rare, low-grade malignant epithelial neoplasm, occurring in the jawbones, mainly affecting the mandible of elderly patients. In addition to hyalinizing clear cell carcinoma of the salivary gland, it is one of the epithelial neoplasms known to harbor an EWSR1-ATF1 fusion. Therefore, a link between these tumors seems plausible. We describe six cases of CCOC showing EWSR1 rearrangements, with two cases being positive for the ATF1 partner gene using FISH analysis. In one case, an EWSR1-CREB1 fusion was identified using RT-PCR, which we report for the first time in this tumor type. The other three cases investigated by FISH were negative for ATF1, CREB1 and CREB3L2. In conclusion, our data show that EWSR1-CREB1 is an alternative fusion gene to EWSR1-ATF1 in CCOC.
AB - Clear cell odontogenic carcinoma (CCOC) is a rare, low-grade malignant epithelial neoplasm, occurring in the jawbones, mainly affecting the mandible of elderly patients. In addition to hyalinizing clear cell carcinoma of the salivary gland, it is one of the epithelial neoplasms known to harbor an EWSR1-ATF1 fusion. Therefore, a link between these tumors seems plausible. We describe six cases of CCOC showing EWSR1 rearrangements, with two cases being positive for the ATF1 partner gene using FISH analysis. In one case, an EWSR1-CREB1 fusion was identified using RT-PCR, which we report for the first time in this tumor type. The other three cases investigated by FISH were negative for ATF1, CREB1 and CREB3L2. In conclusion, our data show that EWSR1-CREB1 is an alternative fusion gene to EWSR1-ATF1 in CCOC.
KW - Clear cell odontogenic carcinoma
KW - EWSR1-ATF1
KW - EWSR1-CREB1
KW - FISH
KW - Gene fusion
KW - RT-PCR
UR - http://www.scopus.com/inward/record.url?scp=85050654981&partnerID=8YFLogxK
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85050654981&origin=inward
UR - https://www.ncbi.nlm.nih.gov/pubmed/30047065
U2 - https://doi.org/10.1007/s12105-018-0953-z
DO - https://doi.org/10.1007/s12105-018-0953-z
M3 - Article
C2 - 30047065
SN - 1936-055X
VL - 13
SP - 225
EP - 230
JO - Head and Neck Pathology
JF - Head and Neck Pathology
IS - 2
ER -
