USP6-induced neoplasms: The biologic spectrum of aneurysmal bone cyst and nodular fasciitis

Human Pathology

Volumn 45, Issue 1, 2014, Pages 1-11

  Oliveira, André M ^a   Chou, Margaret M ^b  

^a MAYO CLINIC   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

Aneurysmal bone cyst; Nodular fasciitis; Transient neoplasia; USP6

Indexed keywords

PROTEINASE;

ANEURYSMAL BONE CYST; ARTICLE; BROWN TUMOR; CHONDROBLASTOMA; CHROMOSOME 16; CHROMOSOME 17; CHROMOSOME TRANSLOCATION; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CURETTAGE; DISEASE ASSOCIATION; FASCIITIS; FIBROUS DYSPLASIA; FLUORESCENCE IN SITU HYBRIDIZATION; FUSION GENE; GENE LOCUS; GENE REARRANGEMENT; GIANT CELL REPARATIVE GRANULOMA; GIANT CELL TUMOR; GRANULOMA; MALIGNANT TRANSFORMATION; MOLECULAR DIAGNOSIS; MOLECULAR PATHOLOGY; NEOPLASM; NODULAR FASCIITIS; ONCOGENE; OSSIFYING MYOSITIS; OSTEOBLASTOMA; OSTEOSARCOMA; PATHOGENESIS; PROGNOSIS; USP6 GENE;

ANEURYSMAL BONE CYST; NODULAR FASCIITIS; TRANSIENT NEOPLASIA; USP6;

BONE CYSTS, ANEURYSMAL; FASCIITIS; HUMANS; ONCOGENES; PROTO-ONCOGENE PROTEINS; UBIQUITIN THIOLESTERASE;

EID: 84890115550     PISSN: 00468177     EISSN: 15328392     Source Type: Journal    
DOI: 10.1016/j.humpath.2013.03.005     Document Type: Article

References (75)

1. H. Jaffe, and L. Lichtenstein Solitary unicameral bone cyst: with emphasis on the roentgen picture, the pathologic appearance and the pathogenesis Arch Surg 44 1942 1004 1025
2. H.L. Jaffe Aneurysmal bone cyst Bull Hosp Joint Dis 11 1950 3 13
3. H.L. Jaffe Giant-cell reparative granuloma, traumatic bone cyst, and fibrous (fibro-oseous) dysplasia of the jawbones Oral Surg Oral Med Oral Pathol 6 1953 159 175
4. P.W. Allen Nodular fasciitis Pathology 4 1972 9 26
5. B. Konwaler, L. Keasbey, and L. Kaplan Subcutaneous pseudosarcomatous proliferation (fasciitis) Am J Clin Pathol 25 1955 241 252
6. A. Lazar, H.L. Evans, and A.M. Oliveira Nodular fasciitis C.D.M. Fletcher, J.A. Bridge, P.C.W. Hogendoorn, F. Mertens, WHO classification of tumours of soft tissue and bone 2013 IARC Lyon 46 47
7. G.P. Nielsen, J.A. Fletcher, and A.M. Oliveira Aneurysmal bone cyst C.D.M. Fletcher, J.A. Bridge, P.C.W. Hogendoorn, F. Mertens, WHO classification of tumours of soft tissue and bone 2013 IARC Lyon 348 349
8. A.M. Oliveira, M.M. Chou, A.R. Perez-Atayde, and A.E. Rosenberg Aneurysmal bone cyst: a neoplasm driven by upregulation of the USP6 oncogene J Clin Oncol 24 2006 e1
9. A.M. Oliveira, A.R. Perez-Atayde, and C.Y. Inwards 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 165 2004 1773 1780
10. M.R. Erickson-Johnson, M.M. Chou, and B.R. Evers Nodular fasciitis: a novel model of transient neoplasia induced by MYH9-USP6 gene fusion Lab Invest 91 2011 1427 1433
11. Chromosomal translocations in Ewing's sarcoma N Engl J Med 309 1983 496 498
12. A.M. Oliveira, and M.M. Chou The TRE17/USP6 oncogene: a riddle wrapped in a mystery inside an enigma Front Biosci (Schol Ed) 4 2012 321 334
13. M.J. Kransdorf, and D.E. Sweet Aneurysmal bone cyst: concept, controversy, clinical presentation, and imaging AJR Am J Roentgenol 164 1995 573 580
14. L. Lichtenstein Aneurysmal bone cyst; observations on fifty cases J Bone Joint Surg Am 39-A 1957 873 882
15. A. Leithner, R. Windhager, and S. Lang Aneurysmal bone cyst. A population based epidemiologic study and literature review Clin Orthop Relat Res 363 1999 176 179
16. V. Martinez, and H.A. Sissons Aneurysmal bone cyst. A review of 123 cases including primary lesions and those secondary to other bone pathology Cancer 61 1988 2291 2304
17. A.M. Vergel De Dios, J.R. Bond, T.C. Shives, R.A. McLeod, and K.K. Unni Aneurysmal bone cyst. A clinicopathologic study of 238 cases Cancer 69 1992 2921 2931
18. K.K. Unni, C.Y. Inwards, J.A. Bridge, L.G. Kindblom, and L.E. Wold Tumors of the Bones and Joints 4th series, vol. 2 2005 AFIP Washington, DC
19. G.P. Nielsen, C.D. Fletcher, M.A. Smith, L. Rybak, and A.E. Rosenberg Soft tissue aneurysmal bone cyst: a clinicopathologic study of five cases Am J Surg Pathol 26 2002 64 69
20. M.F. Pietschmann, A.M. Oliveira, and M.M. Chou Aneurysmal bone cysts of soft tissue represent true neoplasms: a report of two cases J Bone Joint Surg Am Vol 93 2011 e45
21. W.R. Sukov, M.F. Franco, and M. Erickson-Johnson 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 Skeletal Radiol 37 2008 321 327
22. H.J. Mankin, F.J. Hornicek, E. Ortiz-Cruz, J. Villafuerte, and M.C. Gebhardt Aneurysmal bone cyst: a review of 150 patients J Clin Oncol 23 2005 6756 6762
23. M. Kyriakos, and D. Hardy Malignant transformation of aneurysmal bone cyst, with an analysis of the literature Cancer 68 1991 1770 1780
24. A.C. van de Luijtgaarden, R.P. Veth, and P.J. Slootweg Metastatic potential of an aneurysmal bone cyst Virchows Arch 455 2009 455 459
25. S.W. Weiss, and J.R. Goldblum Enzinger and Weiss's Soft Tissue Tumors 2008 Mosby Elsevier China
26. E.B. Price Jr., W.M. Silliphant, and R. Shuman Nodular fasciitis: a clinicopathologic analysis of 65 cases Am J Clin Pathol 35 1961 122 136
27. S. Shimizu, H. Hashimoto, and M. Enjoji Nodular fasciitis: an analysis of 250 patients Pathology 16 1984 161 166
28. J.L. Hornick, and C.D. Fletcher Intraarticular nodular fasciitis - a rare lesion: clinicopathologic analysis of a series Am J Surg Pathol 30 2006 237 241
29. T. Hansen, K. Katenkamp, and D. Katenkamp Intramuscular nodular fasciitis - a clinicopathological study with emphasis on myogenic giant cells Der Pathologe 27 2006 198 203
30. S.P. Nishi, N.V. Brey, and R.L. Sanchez Dermal nodular fasciitis: three case reports of the head and neck and literature review J Cutan Pathol 33 2006 378 382
31. F.M. Lai, and W.Y. Lam Nodular fasciitis of the dermis J Cutan Pathol 20 1993 66 69
32. P.J. Daroca Jr., D.R. Pulitzer, and J. LoCicero III Ossifying fasciitis Arch Pathol Lab Med 106 1982 682 685
33. J. Kwittken, and M. Branche Fasciitis ossificans Am J Clin Pathol 51 1969 251 255
34. D.H. Lauer, and F.M. Enzinger Cranial fasciitis of childhood Cancer 45 1980 401 406
35. A.S. Patchefsky, and F.M. Enzinger Intravascular fasciitis: a report of 17 cases Am J Surg Pathol 5 1981 29 36
36. I. Kikuchi, M. Hiejima, and S. Inoue Nodular fasciitis. A spontaneously regressing tumor? J Dermatol 7 1980 143 147
37. J.L. Biesecker, R.C. Marcove, A.G. Huvos, and V. Mike Aneurysmal bone cysts. A clinicopathologic study of 66 cases Cancer 26 1970 615 625
38. J.R. Clough, and C.H. Price Aneurysmal bone cyst: pathogenesis and long term results of treatment Clin Orthop Relat Res 97 1973 52 63
39. H. Dorfman, and B. Czerniack Bone Tumors 1st ed 1998 Mosby St. Louis
40. L.E. Wold, C.P. Adler, F.H. Sim, and K.K. Unni Atlas of Orthopedic Pathology 2nd ed. 2003 Saunders Philadelphia, PA
41. G. Panoutsakopoulos, N. Pandis, and I. Kyriazoglou Recurrent t(16;17)(q22;p13) in aneurysmal bone cysts Genes Chromosomes Cancer 26 1999 265 266
42. P. Dal Cin, H.P. Kozakewich, and L. Goumnerova Variant translocations involving 16q22 and 17p13 in solid variant and extraosseous forms of aneurysmal bone cyst Genes Chromosomes Cancer 28 2000 233 234
43. R. Sciot, H. Dorfman, and P. Brys Cytogenetic-morphologic correlations in aneurysmal bone cyst, giant cell tumor of bone and combined lesions. A report from the CHAMP study group Mod Pathol 13 2000 1206 1210
44. A.M. Oliveira, B.L. Hsi, and S. Weremowicz USP6 (Tre2) fusion oncogenes in aneurysmal bone cyst Cancer Res 64 2004 1920 1923
45. M. Okazaki, S. Takeshita, and S. Kawai Molecular cloning and characterization of OB-cadherin, a new member of cadherin family expressed in osteoblasts J Biol Chem 269 1994 12092 12098
46. L. Li, J. Ying, and H. Li The human cadherin 11 is a pro-apoptotic tumor suppressor modulating cell stemness through Wnt/beta-catenin signaling and silenced in common carcinomas Oncogene 31 2012 3901 3912
47. C.A. Paulding, M. Ruvolo, and D.A. Haber The Tre2 (USP6) oncogene is a hominoid-specific gene Proc Natl Acad Sci USA 100 2003 2507 2511
48. L. Pei, Y. Peng, and Y. Yang PRC17, a novel oncogene encoding a Rab GTPase-activating protein, is amplified in prostate cancer Cancer Res 62 2002 5420 5424
49. S. Akhavantabasi, H.B. Akman, and A. Sapmaz USP32 is an active, membrane-bound ubiquitin protease overexpressed in breast cancers Mamm Genome 21 2010 388 397
50. A.M. Oliveira, A.R. Perez-Atayde, and P. Dal Cin Aneurysmal bone cyst variant translocations upregulate USP6 transcription by promoter swapping with the ZNF9, COL1A1, TRAP150, and OMD genes Oncogene 24 2005 3419 3426
51. Y. Ye, L.M. Pringle, and A.W. Lau TRE17/USP6 oncogene translocated in aneurysmal bone cyst induces matrix metalloproteinase production via activation of NF-kappaB Oncogene 29 2010 3619 3629
52. L.M. Pringle, R. Young, and L. Quick Atypical mechanism of NF-kappaB activation by TRE17/ubiquitin-specific protease 6 (USP6) oncogene and its requirement in tumorigenesis Oncogene 31 2012 3525 3535
53. A.W. Lau, L.M. Pringle, and L. Quick TRE17/ubiquitin-specific protease 6 (USP6) oncogene translocated in aneurysmal bone cyst blocks osteoblastic maturation via an autocrine mechanism involving bone morphogenetic protein dysregulation J Biol Chem 285 2010 37111 37120
54. M. D'Apolito, V. Guarnieri, M. Boncristiano, L. Zelante, and A. Savoia Cloning of the murine non-muscle myosin heavy chain IIA gene ortholog of human MYH9 responsible for May-Hegglin, Sebastian, Fechtner, and Epstein syndromes Gene 286 2002 215 222
55. A. Savoia, and C.L. Balduini MYH9-related disorders 2008 Nov 20 [Updated 2011 Apr 5] R.A. Pagon, T.D. Bird, C.R. Dolan, GeneReview [Internet] 1993-2013 University of Washington, Seattle Seattle, WA Available from http://www.ncbi.nlm.nih.gov/books/NBK2689/
56. M. Seri, A. Pecci, and F. Di Bari MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness Medicine (Baltimore) 82 2003 203 215
57. C.L. Balduini, A. Pecci, and A. Savoia Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias Br J Haematol 154 2011 161 174
58. K. Althaus, J. Najm, and A. Greinacher MYH9 related platelet disorders - often unknown and misdiagnosed Klin Padiatr 223 2011 120 125
59. L. Lamant, R.D. Gascoyne, and M.M. Duplantier Non-muscle myosin heavy chain (MYH9): a new partner fused to ALK in anaplastic large cell lymphoma Genes Chromosomes Cancer 37 2003 427 432
60. A. Yanagisawa, and H. Okada Nodular fasciitis with degeneration and regression J Craniofac Surg 19 2008 1167 1170
61. E.N. Huter, C.C. Lee, R.M. Sherry, and M.C. Udey Spontaneous regression and recurrence in a case of nodular fasciitis Acta Derm Venereol 89 2009 438 439
62. A. Roy, I. Roberts, and P. Vyas Biology and management of transient abnormal myelopoiesis (TAM) in children with Down syndrome Semin Fetal Neonatal Med 17 2012 196 201
63. P.A. Althof, K. Ohmori, and M. Zhou Cytogenetic and molecular cytogenetic findings in 43 aneurysmal bone cysts: aberrations of 17p mapped to 17p13.2 by fluorescence in situ hybridization Mod Pathol 17 2004 518 525
64. A. Johnsson, A. Collin, and A. Rydholm Unstable translocation (8;22) in a case of giant cell reparative granuloma Cancer Genet Cytogenet 177 2007 59 63
65. Z. Pan, W.G. Sanger, and J.A. Bridge A novel t(6;13)(q15;q34) translocation in a giant cell reparative granuloma (solid aneurysmal bone cyst) Hum Pathol 43 2012 952 957
66. B.C. Gleason, P.K. Kleinman, and L.V. Debelenko Novel karyotypes in giant cell-rich lesions of bone Am J Surg Pathol 31 2007 926 932
67. E.J. Reichenberger, M.A. Levine, B.R. Olsen, M.E. Papadaki, and S.A. Lietman The role of SH3BP2 in the pathophysiology of cherubism Orphanet J Rare Dis 7 Suppl 1 2012 S5
68. A.E. Rosenberg, and A.M. Oliveira Myositis ossificans and fibro-ossous pseudotumour of digits C.D.M. Fletcher, J.A. Bridge, P.C.W. Hogendoorn, F. Mertens, WHO Classification of tumours of soft tissue and bone 2013 IARC Lyon 50 51 [Lyon]
69. I. Dahl, L. Angervall, S. Magnusson, and B. Stener Classical and cystic nodular fasciitis Pathol Eur 7 1972 211 221
70. P. Botez Modern surgical treatment of aneurysmal bone cyst using a synthetic bone substitute (Ceraform, a calcium phosphate ceramic) Rev Med Chir Soc Med Nat Iasi 107 2003 913 920
71. G.G. Broc-Haro, F. Rodriguez-Valencia, and S. Manrique-Guzman Spontaneous regression of aneurysmal bone cyst of the skull. Case report Cir Cir 75 2007 49 51
72. M. Karparov, and D. Kitov Aneurysmal bone cyst of the spine Acta Neurochir (Wien) 39 1977 101 113
73. F.J. Lopez Pison, F.J. Pison Garces, and M.M. Used Aznar Spontaneous regression of an aneurysmal bone cyst of the vertebrae after partial excision An Esp Pediatr 27 1987 190 194
74. M.M. McQueen, J. Chalmers, and G.D. Smith Spontaneous healing of aneurysmal bone cysts. A report of two cases J Bone Joint Surg Br 67 1985 310 312
75. Y. Saglik, M.I. Kapicioglu, and B. Guzel Spontaneous regression of aneurysmal bone cyst. A case report Arch Orthop Trauma Surg 112 1993 203 204