Primary aneurysmal bone cyst of the mandibular condyle with USP6-CDH11 fusion.
Pathol Res Pract
; 215(3): 607-610, 2019 Mar.
Article
em En
| MEDLINE
| ID: mdl-30401581
ABSTRACT
Primary aneurysmal bone cyst (ABC) is a cystic bone neoplasm characterized by disease-defining gene fusions involving the USP6/Tre2 gene. The literature describing gnathic ABC is limited. This case report describes a 27-year-old man presenting with a long-standing left-sided facial asymmetry. Multi-detector computed tomography imaging demonstrated a large expansile lesion positioned within the left condylar head. The lesion was biopsied and resected. The specimen showed a giant cell-rich cystic neoplasm, with fibrous tissue lined by multinucleated giant cells. Next-generation sequencing confirmed the presence of a USP6-CDH11 fusion gene, consistent with classification as a primary ABC, the first reported to be translocation-positive in the head of the mandibular condyle.
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Base de dados:
MEDLINE
Assunto principal:
Doenças Mandibulares
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Caderinas
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Proteínas Proto-Oncogênicas
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Cistos Ósseos Aneurismáticos
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Ubiquitina Tiolesterase
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article