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Web End = Skeletal Radiol (2015) 44:16951699 DOI 10.1007/s00256-015-2205-6
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Web End = CASE REPORT
Soft-tissue aneurysmal bone cyst with translocation t(17;17) (p13;q21) corresponding to COL1A1 and USP6 loci
Cyril Jacquot1 & Jadwiga Szymanska2 & Lakshmi J. Nemana2 &
Lynne S. Steinbach3 & Andrew E. Horvai1,4
Received: 14 May 2015 /Revised: 10 June 2015 /Accepted: 15 June 2015 /Published online: 5 July 2015 # ISS 2015
Abstract 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.
Keywords Soft-tissue aneurysmal bone cyst . Myositis ossificans . Cytogenetic analysis . USP6 . COL1A1
Introduction
Aneurysmal bone cysts (ABCs) were initially described in 1942 by Jaffe and Lichtenstein [1]. These lesions are benign, locally aggressive, and can recur locally [2]. ABCs can occur in any age group, but patients are generally in the first two decades of life [3]. There is no predisposition for either gender [2]. Complete surgical excision is often curative.
Aneurysmal bone cysts were initially thought to represent reactive processes of bone because of their occasional association with other benign or malignant neoplasms [2, 4]. However, a primary form of ABC also exists, demonstrated by the discovery of translocations involving the ubiquitin-specific peptidase 6 (USP6) gene suggesting a clonal process [57]. USP6 belongs to a large family of...