Scientific Article

Skeletal Radiology

, Volume 37, Issue 4, pp 321-327

First online:

Frequency of USP6 rearrangements in myositis ossificans, brown tumor, and cherubism: molecular cytogenetic evidence that a subset of “myositis ossificans-like lesions” are the early phases in the formation of soft-tissue aneurysmal bone cyst

  • William R. SukovAffiliated withDepartment of Laboratory Medicine and Pathology, Mayo Clinic
  • , Marcello F. FrancoAffiliated withDepartamento de Patologia, Universidade Federal do Estado de São Paulo (UNEFESP)
  • , Michele Erickson-JohnsonAffiliated withDepartment of Laboratory Medicine and Pathology, Mayo Clinic
  • , Margaret M. ChouAffiliated withUniversity of Pennsylvania School of Medicine
  • , K. Krishnan UnniAffiliated withDepartment of Laboratory Medicine and Pathology, Mayo Clinic
  • , Doris E. WengerAffiliated withDepartment of Radiology, Mayo Clinic
  • , Xiaoke WangAffiliated withDepartment of Laboratory Medicine and Pathology, Mayo Clinic
  • , Andre M. OliveiraAffiliated withDepartment of Laboratory Medicine and Pathology, Mayo Clinic Email author 

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Abstract

Objective

USP6 rearrangements with several partner genes have been identified recently in primary but not in secondary aneurysmal bone cysts (ABCs). Several lesions show histologic features that may overlap with ABC, including myositis ossificans (MO), brown tumor, and cherubism. The objective of this study was to assess whether these lesions harbored USP6 rearrangements.

Materials and methods

Twelve patients with classic radiologic and histologic features of MO, 6 with brown tumors, and 5 with cherubism diagnosed at our institution were studied for the presence of USP6 rearrangements using fluorescence in situ hybridization with probes flanking the USP6 locus on chromosome 17p13. In addition, conventional cytogenetic analysis was performed in 2 patients with cherubism.

Results

USP6 rearrangements were identified in 2 patients with radiologic and histologic features consistent with MO. None of the patients with brown tumor or cherubism demonstrated USP6 rearrangements. Cytogenetic analysis of the cherubism patients demonstrated normal karyotypes.

Conclusion

These findings indicate that a subset of cases with apparent classic histologic and imaging features of MO are rather better classified as being soft-tissue ABC with clonal USP6 rearrangements. In contrast, no USP6 rearrangements were found in patients with cherubism or brown tumor, supporting the prevailing view that these lesions are distinct biologic entities.

Keywords

USP6 Soft tissue ABC Myositis ossificans