EWSR1 and ATF1 rearrangements in clear cell odontogenic carcinoma: presentation of a case.
Clear cell odontogenic carcinoma (CCOC) is a rare odontogenic tumor of the jaws that is more common in the mandible than maxilla and has a female preponderance with a peak incidence in the sixth decade. It is characterized by locally aggressive behavior and has the potential to metastasize. This tumor was recently reported to have a rearrangement of the Ewing sarcoma breakpoint region 1 gene (EWS RNA-binding protein 1, EWSR1) in 5 of 8 cases tested and of the activating transcription factor 1 gene (ATF1) in 1 case tested. We report a case of CCOC in the premolar area of the mandible in a 59-year-old woman. This case demonstrated the presence of both EWSR1 and ATF1 gene rearrangements by fluorescence in situ hybridization.
Division of Oral and Maxillofacial Pathology, Department of Dental Medicine, Hofstra North Shore-LIJ School of Medicine, New Hyde Park, NY, USA. Electronic address: ayancosk12@nshs.edu.
Aaron E
AE
Yancoskie
Division of Cytogenetics and Molecular Pathology, Hofstra North Shore-LIJ School of Medicine, New Hyde Park, NY, USA.
Chandrika
C
Sreekantaiah
Division of Cytogenetics and Molecular Pathology, Long Island Jewish Medical Center, New Hyde Park, NY, USA.
Jessy
J
Jacob
Division of Laboratory Medicine and Histology, Long Island Jewish Medical Center, New Hyde Park, NY, USA.
Amanda
A
Rosenberg
Department of Pathology, Hofstra North Shore-LIJ School of Medicine, New Hyde Park, NY, USA.
Morris
M
Edelman
Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Cristina R
CR
Antonescu
Division of Oral and Maxillofacial Pathology, Department of Dental Medicine, Hofstra North Shore-LIJ School of Medicine, New Hyde Park, NY, USA.
John E
JE
Fantasia
D018262:Adenocarcinoma, Clear Cell / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology / Q000601:surgery*; D001706:Biopsy; D002148:Calmodulin-Binding Proteins / Q000235:genetics*; D054893:Cone-Beam Computed Tomography; D003937:Diagnosis, Differential; D003952:Diagnostic Imaging; D005260:Female; D015321:Gene Rearrangement; D006801:Humans; D007150:Immunohistochemistry; D017404:In Situ Hybridization, Fluorescence; D008339:Mandibular Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology / Q000601:surgery*; D008875:Middle Aged; D009808:Odontogenic Tumors / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology / Q000601:surgery*; D034802:RNA-Binding Protein EWS; D016601:RNA-Binding Proteins / Q000235:genetics*
D002148:Calmodulin-Binding Proteins; C500986:EWSR1 protein, human; D034802:RNA-Binding Protein EWS; D016601:RNA-Binding Proteins