Clear Cell Odontogenic Carcinoma: Occurrence of EWSR1-CREB1 as Alternative Fusion Gene to EWSR1-ATF1

Rob Vogels, Daniel Baumhoer, Joost van Gorp, Astrid Eijkelenboom, Marian Verdijk, Patricia van Cleef, Elisabeth Bloemena, Pieter J. Slootweg, Bjorn Lohman, Maria Debiec-Rychter, Uta Flucke

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

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.
Original languageEnglish
JournalHead and neck pathology
Early online date2018
DOIs
Publication statusE-pub ahead of print - 2018

Cite this

Vogels, R., Baumhoer, D., van Gorp, J., Eijkelenboom, A., Verdijk, M., van Cleef, P., ... Flucke, U. (2018). Clear Cell Odontogenic Carcinoma: Occurrence of EWSR1-CREB1 as Alternative Fusion Gene to EWSR1-ATF1. Head and neck pathology. https://doi.org/10.1007/s12105-018-0953-z
Vogels, Rob ; Baumhoer, Daniel ; van Gorp, Joost ; Eijkelenboom, Astrid ; Verdijk, Marian ; van Cleef, Patricia ; Bloemena, Elisabeth ; Slootweg, Pieter J. ; Lohman, Bjorn ; Debiec-Rychter, Maria ; Flucke, Uta. / Clear Cell Odontogenic Carcinoma : Occurrence of EWSR1-CREB1 as Alternative Fusion Gene to EWSR1-ATF1. In: Head and neck pathology. 2018.
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title = "Clear Cell Odontogenic Carcinoma: Occurrence of EWSR1-CREB1 as Alternative Fusion Gene to EWSR1-ATF1",
abstract = "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.",
keywords = "Clear cell odontogenic carcinoma, EWSR1-ATF1, EWSR1-CREB1, FISH, Gene fusion, RT-PCR",
author = "Rob Vogels and Daniel Baumhoer and {van Gorp}, Joost and Astrid Eijkelenboom and Marian Verdijk and {van Cleef}, Patricia and Elisabeth Bloemena and Slootweg, {Pieter J.} and Bjorn Lohman and Maria Debiec-Rychter and Uta Flucke",
year = "2018",
doi = "10.1007/s12105-018-0953-z",
language = "English",
journal = "Head and neck pathology",
issn = "1936-055X",
publisher = "Humana Press",

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Vogels, R, Baumhoer, D, van Gorp, J, Eijkelenboom, A, Verdijk, M, van Cleef, P, Bloemena, E, Slootweg, PJ, Lohman, B, Debiec-Rychter, M & Flucke, U 2018, 'Clear Cell Odontogenic Carcinoma: Occurrence of EWSR1-CREB1 as Alternative Fusion Gene to EWSR1-ATF1' Head and neck pathology. https://doi.org/10.1007/s12105-018-0953-z

Clear Cell Odontogenic Carcinoma : Occurrence of EWSR1-CREB1 as Alternative Fusion Gene to EWSR1-ATF1. / Vogels, Rob; Baumhoer, Daniel; van Gorp, Joost; Eijkelenboom, Astrid; Verdijk, Marian; van Cleef, Patricia; Bloemena, Elisabeth; Slootweg, Pieter J.; Lohman, Bjorn; Debiec-Rychter, Maria; Flucke, Uta.

In: Head and neck pathology, 2018.

Research output: Contribution to journalArticleAcademicpeer-review

TY - JOUR

T1 - Clear Cell Odontogenic Carcinoma

T2 - Occurrence of EWSR1-CREB1 as Alternative Fusion Gene to EWSR1-ATF1

AU - Vogels, Rob

AU - Baumhoer, Daniel

AU - van Gorp, Joost

AU - Eijkelenboom, Astrid

AU - Verdijk, Marian

AU - van Cleef, Patricia

AU - Bloemena, Elisabeth

AU - Slootweg, Pieter J.

AU - Lohman, Bjorn

AU - Debiec-Rychter, Maria

AU - Flucke, Uta

PY - 2018

Y1 - 2018

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

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UR - https://www.ncbi.nlm.nih.gov/pubmed/30047065

U2 - 10.1007/s12105-018-0953-z

DO - 10.1007/s12105-018-0953-z

M3 - Article

JO - Head and neck pathology

JF - Head and neck pathology

SN - 1936-055X

ER -