Top

Published in:

01-04-2008 | Scientific Article

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

Authors: William R. Sukov, Marcello F. Franco, Michele Erickson-Johnson, Margaret M. Chou, K. Krishnan Unni, Doris E. Wenger, Xiaoke Wang, Andre M. Oliveira

Published in: Skeletal Radiology | Issue 4/2008

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.

Rosenberg AE, Nielsen GP, Fletcher JA. Aneurysmal bone cyst. In: Fletcher CDM, Unni KK, Mertens F, editors. World Health Organization classification of tumours: pathology and genetics of tumours of soft tissue and bone. Lyon: IARC Press; 2002. p. 338–339.

Vergel De Dios AM, Bond JR, Shives TC, McLeod RA, Unni KK. Aneurysmal bone cyst: a clinicopathologic study of 238 cases. Cancer 1992; 69: 2921–2931.PubMedCrossRef

Panoutsakopoulos G, Pandis N, Kyriazoglou I, Gustafson P, Mertens F, Mandahl N. Recurrent t(16;17)(q22;p13) in aneurysmal bone cysts. Genes Chromosomes Cancer 1999; 26: 265–266.PubMedCrossRef

Oliveira AM, Hsi BL, Weremowicz S, Rosenberg AE, Dal Cin P, Joseph N, et al. USP6 (Tre2) fusion oncogenes in aneurysmal bone cyst. Cancer Res 2004; 64: 1920–1923.PubMedCrossRef

Althof PA, Ohmori K, Zhou M, Bailey JM, Bridge RS, Nelson M, et al. Cytogenetic and molecular cytogenetic findings in 43 aneurysmal bone cysts: aberrations of 17p mapped to 17p13.2 by fluorescence in situ hybridization. Mod Pathol 2004; 17: 518–525.PubMedCrossRef

Winnepenninckx V, Debiec-Rychter M, Jorissen M, Bogaerts S, Sciot R. Aneurysmal bone cyst of the nose with 17p13 involvement. Virchows Arch 2001; 439: 636–639.PubMed

Wyatt-Ashmead J, Bao L, Eilert RE, Gibbs P, Glancy G, McGavran L. Primary aneurysmal bone cysts: 16q22 and/or 17p13 chromosome abnormalities. Pediatr Dev Pathol 2001; 4: 418–419.PubMedCrossRef

Oliveira AM, Perez-Atayde AR, Dal Cin P, Gebhardt MC, Chen CJ, Neff JR, et al. Aneurysmal bone cyst variant translocations upregulate USP6 transcription by promoter swapping with the ZNF9, COL1A1, TRAP150, and OMD genes. Oncogene 2005; 24:3419–3426.PubMedCrossRef

Dal Cin P, Kozakewich HP, Goumnerova L, Mankin HJ, Rosenberg AE, Fletcher JA. Variant translocations involving 16q22 and 17p13 in solid variant and extraosseous forms of aneurysmal bone cyst. Genes Chromosomes Cancer 2000; 28: 233–234.PubMedCrossRef

10.

Herens C, Thiry A, Dresse MF, Born J, Flagothier C, Vanstraelen G, et al. Translocation (16;17)(q22;p13) is a recurrent anomaly of aneurysmal bone cysts. Cancer Genet Cytogenet 2001; 127: 83–84.PubMedCrossRef

11.

Oliveira AM, Perez-Atayde AR, Inwards CY, Medeiros F, Derr V, Hsi BL, et al. USP6 and CDH11 oncogenes identify the neoplastic cell in primary aneurysmal bone cysts and are absent in so-called secondary aneurysmal bone cysts. Am J Pathol 2004; 165: 1773–1780.PubMed

12.

Rosenberg AE. Myositis ossificans and fibroosseous pseudotumors of digits. In: Fletcher CDM, Unni KK, Mertens F, editors. World Health Organization classification of tumours: pathology and genetics of tumours of soft tissue and bone. Lyon: IARC; 2002. p. 52–54.

13.

Unni KK, Inwards CY, Bridge JA, Kindblom L-G, Wold LE. Tumours of the bones and joints. 4th series, fascicle 2. Washington, DC: American Registry of Pathology; 2005. p. 324–329, 370, 371.

14.

Fletcher JA, Kozakewich HP, Hoffer FA, Lage JM, Weidner N, Tepper R, et al. Diagnostic relevance of clonal cytogenetic aberrations in malignant soft-tissue tumors. N Engl J Med 1991; 324: 436–442.PubMedCrossRef

15.

Kimmel DW, O’Fallon JR, Scheithauer BW, Kelly PJ, Dewald GW, Jenkins RB. Prognostic value of cytogenetic analysis in human cerebral astrocytomas. Ann Neurol 1992; 31: 534–542.PubMedCrossRef

16.

Schaffer LG, Tommerup N, editors. ISCN 2005: an international system for human cytogenetic nomenclature: recommendations of the International Standing Committee on Human Cytogenetic Nomenclature. Basel: Karger; 2005.

17.

Amir G, Mogle P, Sucher E. Case report 729: myositis ossificans and aneurysmal bone cyst. Skeletal Radiol 1992; 21: 257–259.PubMedCrossRef

18.

Kransdorf MJ, Meis JM, Jelinek JS. Myositis ossificans: MR appearance with radiologic-pathologic correlation. AJR Am J Roentgenol 1991; 157: 1243–1248.PubMed

19.

Siegel MJ. Magnetic resonance imaging of musculoskeletal soft tissue masses. Radiol Clin North Am 2001; 39: 701–720.PubMedCrossRef

20.

Nielsen GP, Fletcher CD, Smith MA, Rybak L, Rosenberg AE. Soft tissue aneurysmal bone cyst: a clinicopathologic study of five cases. Am J Surg Pathol 2002; 26: 64–69.PubMedCrossRef

21.

Salm R, Sissons HA. Giant-cell tumours of soft tissues. J Pathol 1972; 107: 27–39.PubMedCrossRef

22.

Ajilogba KA, Kaur H, Duncan R, McFarlane JH, Watt AJ. Extraosseous aneurysmal bone cyst in a 12-year-old girl. Pediatr Radiol 2005; 35: 1240–1242.PubMedCrossRef

23.

Lopez-Barea F, Rodriguez-Peralto JL, Burgos-Lizaldez E, Alvarez-Linera J, Sanchez-Herrera S. Primary aneurysmal cyst of soft tissue: report of a case with ultrastructural and MRI studies. Virchows Arch 1996; 428: 125–129.PubMedCrossRef

24.

Petrik PK, Findlay JM, Sherlock RA. Aneurysmal cyst, bone type, primary in an artery. Am J Surg Pathol 1993; 17: 1062–1066.PubMed

25.

Rodriguez-Peralto JL, Lopez-Barea F, Sanchez-Herrera S, Atienza M. Primary aneurysmal cyst of soft tissues (extraosseous aneurysmal cyst). Am J Surg Pathol 1994; 18: 632–636.PubMedCrossRef

26.

Shannon P, Bedard Y, Bell R, Kandel R. Aneurysmal cyst of soft tissue: report of a case with serial magnetic resonance imaging and biopsy. Hum Pathol 1997; 28: 255–257.PubMedCrossRef

27.

Wang XL, Gielen JL, Salgado R, Delrue F, De Schepper AM. Soft tissue aneurysmal bone cyst. Skeletal Radiol 2004; 33: 477–480.PubMedCrossRef

28.

Miah SM, Hatani T, Qu X, Yamamura H, Sada K. Point mutations of 3BP2 identified in human-inherited disease cherubism result in the loss of function. Genes Cells 2004; 9: 993–1004.PubMedCrossRef

29.

Ueki Y, Tiziani V, Santanna C, Fukai N, Maulik C, Garfinkle J, et al. Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism. Nat Genet 2001; 28: 125–126.PubMedCrossRef

30.

Imai Y, Kanno K, Moriya T, Kayano S, Seino H, Matsubara Y, et al. A missense mutation in the SH3BP2 gene on chromosome 4p16.3 found in a case of nonfamilial cherubism. Cleft Palate Craniofac J 2003; 40: 632–638.PubMedCrossRef

31.

Lo B, Faiyaz-Ul-Haque M, Kennedy S, Aviv R, Tsui L-C, Teebi AS. Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism. Am J Med Genet 2003; 121A: 37–40.CrossRefPubMed

32.

Ren R, Mayer BJ, Cicchetti P, Baltimore D. Identification of a ten-amino acid proline-rich SH3 binding site. Science 1993; 259:1157–1161.PubMedCrossRef

33.

Deckert M, Tartare-Deckert S, Hernandez J, Rottapel R, Altman A. Adaptor function for the Syk kinases-interacting protein 3BP2 in IL-2 gene activation. Immunity 1998; 9: 595–605.PubMedCrossRef

Title: 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
Authors: William R. Sukov
Marcello F. Franco
Michele Erickson-Johnson
Margaret M. Chou
K. Krishnan Unni
Doris E. Wenger
Xiaoke Wang
Andre M. Oliveira
Publication date: 01-04-2008
Publisher: Springer-Verlag
Published in: Skeletal Radiology / Issue 4/2008
Print ISSN: 0364-2348
Electronic ISSN: 1432-2161
DOI: https://doi.org/10.1007/s00256-007-0442-z

At a glance: The STEP trials

Springer Medicine

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

Abstract

Objective

Materials and methods

Results

Conclusion

At a glance: The STEP trials

Springer Medicine

Abstract

Objective

Materials and methods

Results

Conclusion

Please log in to get access to this content

Other articles of this Issue 4/2008

Society of Skeletal Radiology 2008 Annual Meeting, Scientific Presentation Sessions, 9–12 March 2008, La Quinta Resort and Club, La Quinta, CA, USA

Lateral meniscal cyst causing common peroneal palsy

Angioleiomyoma in the palm of an 11-year-old boy

Automated bony region identification using artificial neural networks: reliability and validation measurements

Optimal 3-T MRI for depiction of the finger A2 pulley: comparison between T1-weighted, fat-saturated T2-weighted and gadolinium-enhanced fat-saturated T1-weighted sequences

Dedifferentiated parosteal osteosarcoma with giant cell tumor component