Soft-tissue aneurysmal bone cyst with translocation t(17;17)(p13;q21) corresponding to COL1A1 and USP6 loci

被引：0
作者：
Cyril Jacquot
Jadwiga Szymanska
Lakshmi J. Nemana
Lynne S. Steinbach
Andrew E. Horvai
机构：
[1] University of California,Department of Pathology
[2] Laboratory Corporation of America® Holdings,Integrated Oncology
[3] University of California,Departments of Radiology and Biomedical Imaging
[4] UCSF Medical Center at Mission Bay,undefined
来源：
Skeletal Radiology | 2015年 / 44卷
关键词：
Soft-tissue aneurysmal bone cyst; Myositis ossificans; Cytogenetic analysis; USP6; COL1A1;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
We present the case of a 46-year-old woman with no significant past medical history who developed left mid-thigh pain and fullness. Imaging demonstrated a mineralized soft-tissue mass, which increased in size during a year of monitoring, but retained a circumscribed appearance. The mass was located in the medial soft tissues of the thigh, separate from the bone on imaging studies, and this finding was confirmed during excision. The mass showed gross and microscopic features of an aneurysmal bone cyst. This diagnosis was supported by cytogenetic analysis revealing a t(17;17)(p13;q21) translocation corresponding to the USP6 and COL1A1 loci. Soft-tissue aneurysmal bone cyst is a rare entity, with fewer than 25 reports in the literature. Limited cytogenetic information about these tumors is available. To our knowledge, the USP6 and COL1A1 rearrangement has only previously been described in a pediatric soft-tissue aneurysmal bone cyst. We also discuss the differential diagnosis of ossifying soft-tissue lesions.
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页码：1695 / 1699
页数：4
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