Literature DB >> 26142538

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 Horvai4,5.   

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.

Entities:  

Keywords:  COL1A1; Cytogenetic analysis; Myositis ossificans; Soft-tissue aneurysmal bone cyst; USP6

Mesh：

Substances：

Year:  2015        PMID： 26142538     DOI： 10.1007/s00256-015-2205-6

Source DB:  PubMed          Journal:  Skeletal Radiol        ISSN： 0364-2348            Impact factor:   2.199


  21 in total

1.  Soft tissue osteoma: tumour entity or reactive lesion? Paraarticular soft tissue osteoma of the hip.

Authors:  H U Kasper; J Adermahr; H P Dienes
Journal:  Histopathology       Date:  2004-01       Impact factor: 5.087

2.  Current concepts in the development of heterotopic ossification.

Authors:  H C Pape; S Marsh; J R Morley; C Krettek; P V Giannoudis
Journal:  J Bone Joint Surg Br       Date:  2004-08

3.  Soft tissue aneurysmal bone cyst: a clinicopathologic study of five cases.

Authors:  G Petur Nielsen; Christopher D M Fletcher; Michael A Smith; Leon Rybak; Andrew E Rosenberg
Journal:  Am J Surg Pathol       Date:  2002-01       Impact factor: 6.394

4.  Soft-tissue aneurysmal bone cyst: report of a case with t(5;17)(q33;p13).

Authors:  Dale A Ellison; Jeffrey R Sawyer; David M Parham; Richard Nicholas
Journal:  Pediatr Dev Pathol       Date:  2007 Jan-Feb

5.  Extraosseous aneurysmal bone cyst in a 12-year-old girl.

Authors:  Kaseem A Ajilogba; Harjeet Kaur; Rodney Duncan; Jeannette H McFarlane; Andrew J Watt
Journal:  Pediatr Radiol       Date:  2005-09-20

6.  Multiple soft tissue aneurysmal cysts: An occurrence after resection of primary aneurysmal bone cyst of fibula.

Authors:  P Karkuzhali; Mahuya Bhattacharyya; P Sumitha
Journal:  Indian J Orthop       Date:  2007-07       Impact factor: 1.251

7.  Fusion of the COL1A1 and USP6 genes in a benign bone tumor.

Authors:  Ioannis Panagopoulos; Fredrik Mertens; Richard Löfvenberg; Nils Mandahl
Journal:  Cancer Genet Cytogenet       Date:  2008-01-01

8.  USP6 (Tre2) fusion oncogenes in aneurysmal bone cyst.

Authors:  Andre M Oliveira; Bae-Li Hsi; Stanislawa Weremowicz; Andrew E Rosenberg; Paola Dal Cin; Nora Joseph; Julia A Bridge; Antonio R Perez-Atayde; Jonathan A Fletcher
Journal:  Cancer Res       Date:  2004-03-15       Impact factor: 12.701

9.  Cytogenetic and molecular cytogenetic findings in 43 aneurysmal bone cysts: aberrations of 17p mapped to 17p13.2 by fluorescence in situ hybridization.

Authors:  Pamela A Althof; Kazuo Ohmori; Ming Zhou; Jacqueline M Bailey; R Stuart Bridge; Marilu Nelson; James R Neff; Julia A Bridge
Journal:  Mod Pathol       Date:  2004-05       Impact factor: 7.842

10.  Extraosseous aneurysmal cyst in hand: a case report.

Authors:  Ajay Sahu; Sarabjeet S Gujral; Sanjeev Gaur
Journal:  Cases J       Date:  2008-10-24
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  8 in total

Review 1.  What is new about the molecular genetics in matrix-producing soft tissue tumors? -The contributions to pathogenetic understanding and diagnostic classification.

Authors:  Yu-Chien Kao; Jen-Chieh Lee; Hsuan-Ying Huang
Journal:  Virchows Arch       Date:  2019-11-07       Impact factor: 4.064

2.  Aneurysmal Bone Cyst: An Analysis of 38 Cases and Report of Four Unusual Surface Ones.

Authors:  Tina Shooshtarizadeh; Sajjadeh Movahedinia; Hassan Mostafavi; Khodamorad Jamshidi; Sam Hajialiloo Sami
Journal:  Arch Bone Jt Surg       Date:  2016-04

Review 3.  [Morphological spectrum of USP6 rearranged lesions].

Authors:  G Mechtersheimer; M Werner
Journal:  Pathologe       Date:  2018-03       Impact factor: 1.011

4.  Novel partners of USP6 gene in a spectrum of bone and soft tissue lesions.

Authors:  Mélanie Legrand; Marie-Lise Jourdan; Anne Tallet; Christine Collin; Virginie Audard; Frédérique Larousserie; Sébastien Aubert; Anne Gomez-Brouchet; Corinne Bouvier; Gonzague de Pinieux
Journal:  Virchows Arch       Date:  2021-02-09       Impact factor: 4.064

Review 5.  Multimodality imaging features of USP6-associated neoplasms.

Authors:  Stephen M Broski; Doris E Wenger
Journal:  Skeletal Radiol       Date:  2022-08-13       Impact factor: 2.128

6.  Fusion of the Lumican (LUM) Gene With the Ubiquitin Specific Peptidase 6 (USP6) Gene in an Aneurysmal Bone Cyst Carrying a t(12;17)(q21;p13) Chromosome Translocation.

Authors:  Ioannis Panagopoulos; Ludmila Gorunova; Kristin Andersen; Ingvild Lobmaier; Marius Lund-Iversen; Francesca Micci; Sverre Heim
Journal:  Cancer Genomics Proteomics       Date:  2020 Sep-Oct       Impact factor: 4.069

7.  Diaphyseal aneurysmal bone cysts (ABCs) of long bones in extremities: Analysis of surgical management and comparison with metaphyseal lesions.

Authors:  Pankaj Kumar Sharma; Zile Singh Kundu; Akshay Lamba; Sunita Singh
Journal:  J Clin Orthop Trauma       Date:  2021-04-17

Review 8.  Update of pediatric soft tissue tumors with review of conventional MRI appearance-part 1: tumor-like lesions, adipocytic tumors, fibroblastic and myofibroblastic tumors, and perivascular tumors.

Authors:  Jack Porrino; Khalid Al-Dasuqi; Lina Irshaid; Annie Wang; Kimia Kani; Andrew Haims; Ezekiel Maloney
Journal:  Skeletal Radiol       Date:  2021-06-30       Impact factor: 2.199
  8 in total

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