Primary Aneurysmal Bone Cyst of the Mandibular Condyle with USP6-CDH11 Fusion

Publication date: Available online 2 November 2018Source: Pathology - Research and PracticeAuthor(s): Patricia J. Brooks, Jeffrey W. Chadwick, Marco Caminiti, Brendan Dickson, Iona LeongAbstractPrimary 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.
Source: Pathology Research and Practice - Category: Pathology Source Type: research