Primary aneurysmal bone cyst of the mandibular condyle with USP6-CDH11 fusion.
Primary aneurysmal bone cyst of the mandibular condyle with USP6-CDH11 fusion.
Pathol Res Pract. 2018 Nov 02;:
Authors: Brooks PJ, Chadwick JW, Caminiti M, Dickson B, Leong I
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.
PMID: 30401581 [PubMed - as supplied by publisher]
Source: Pathology, Research and Practice - Category: Pathology Authors: Brooks PJ, Chadwick JW, Caminiti M, Dickson B, Leong I Tags: Pathol Res Pract Source Type: research