Primary aneurysmal bone cyst of the mandibular condyle with USP6-CDH11 fusion

被引：6

作者：

Brooks, Patricia J. ^{[1
,2
]}

Chadwick, Jeffrey W. ^{[1
,2
]}

Caminiti, Marco ^{[1
,3
]}

Dickson, Brendan ^{[1
,3
]}

Leong, Iona ^{[1
,3
]}

机构：

[1] Univ Toronto, Fac Dent, Toronto, ON, Canada

[2] Princess Margaret Canc Ctr, Toronto, ON, Canada

[3] Mt Sinai Hosp, Toronto, ON, Canada

来源：

PATHOLOGY RESEARCH AND PRACTICE | 2019年 / 215卷 / 03期

关键词：

Aneurysmal bone cyst; USP6; translocation; Giant cell lesion; Next-generation sequencing; GIANT-CELL LESIONS; 6; USP6; ONCOGENE; NODULAR FASCIITIS; REARRANGEMENTS; MECHANISM; SPECTRUM; FEATURES; TUMOR; JAWS;

D O I：

10.1016/j.prp.2018.10.038

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

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.

引用

页码：607 / 610

页数：4

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