Abstract
Aneurysmal bone cyst (ABC) is a benign bone neoplasm that usually affects the metaphysis of long bones and the posterior elements of vertebral bodies. The rearrangement of USP6 gene is present in most of primary ABC cases. Synchronous polyostotic presentation is extremely rare. All of the eight reported cases in literature have a classic ABC histomorphology, including dilated-blood filled cystic spaces separated by fibrous septa and composed of variably cellular bland fibroblasts with scattered osteoclast-like giant cells and reactive new bone formation. Herein, we report a case of a 29-year-old female with a synchronous polyostotic solid variant of ABC involving her T7-T11 posterior elements of her thoracic vertebrae with a novel AHNAK::USP6 fusion, detected by next-generation sequencing (NGS). This case is distinguished by its synchronous polyostotic presentation, solid rather than classic ABC morphology and novel AHNAK::USP6 fusion, which has not been previously reported in ABC or in any mesenchymal bone tumor.
This is a preview of subscription content, log in via an institution to check access.
References
Song W, Suurmeijer AJH, Bollen SM et al (2019) Soft tissue aneurysmal bone cyst: six new cases with imaging details, molecular pathology, and review of the literature. Skeletal Radiol 48(7):1059–1067
Oliveira AM, Perez-Atayde AR, Inwards CY et al (2004) 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(5):1773–1780
Oliveira AM, Perez-Atayde AR, Dal Cin P et al (2005) Aneurysmal bone cyst variant translocations upregulate USP6 transcription by promoter swapping with the ZNF9, COL1A1, TRAP150 and OMD genes. Oncogene 24(21):3419–3426
Scheil-Bertram S, Hartwig E, Bruderlein S, Melzner I, Von Baer A et al (2004) Metachronous and multiple aneurysmal bone cysts: a rare variant of primary aneurysmal bone cysts. Virchows Arch 444(3):293–299
Karkuzhali P, Bhattacharyya M, Sumitha P (2007) Multiple soft tissue aneurysmal cysts: An occurrence after resection of primary aneurysmal bone cyst of fibula. Indian J Orthop 41(3):246–249
Angelini A, Mavrogenis AF, Pagliarini E, Igoumenou VG, Gulia A et al (2020) Rare aneurysmal bone cysts: multifocal, extraosseous, and surface variants. Eur J Orthop Surg Traumatol 30(6):969–978
Bouomrani S, Riahi S (2020) Multifocal polyostotic aneurysmal bone cyst of pelvic bones. Glob J Ortho Res. 2(4):GJOR.MS.ID.000541. https://doi.org/10.33552/GJOR.2020.02.000541
Sundaram M, McDonald DJ, Steigman CK, Bocchini T (1997) Metachronous multiple aneurysmal bone cysts. Skelet Radiol 26(9):564–567
Amer HZ, Mayerson JL, Klein MJ, Baker PB (2012) Metachronous aneurysmal bone cyst in a 9 year-old boy: case report and review of the literature. J Pediatr Orthop Part B 21(2):187–191
Donigan JA, Kebaish KM, McCarthy EF (2003) Metachronous aneurysmal bone cysts with involvement of the humerus and the thoracic vertebrae. Skelet Radiol 32(8):468–471
Niemeier TE, Leddy LR, Chapin RW, Smith TM (2013) Metachronous aneurysmal bone cysts in a fourteen-year-old girl: a case report and review of the literature. JBJS Case Connect 3(2 Suppl 8):1–7
Naylor WM, Collier CD, Redline RW, Getty PJ (2019) Metachronous, polyostotic aneurysmal bone cysts in an adolescent female: a case report. jbjs case connect 9(4):e0263. https://doi.org/10.2106/JBJS.CC.18.00263. Erratum in: JBJS Case Connect
Capanna R, Campanacci DA, Manfrini M (1996) Unicameral and aneurysmal bone cysts. Orthop Clin N Am 27(3):605–614
Kransdorf MJ, Sweet DE (1995) Aneurysmal bone cyst: concept, controversy, clinical presentation, and imaging. AJR Am J Roentgenol 164(3):573–580
Blackburn PR, Davila JI, Jackson RA et al (2019) RNA sequencing identifies a novel USP9X-USP6 promoter swap gene fusion in a primary aneurysmal bone cyst. Genes Chromosom Cancer 58:589–594
Heideker J, Wertz IE (2015) DUBs, the regulation of cell identity and disease. Biochem J 465(1):1–26
Sheppard HM, Feisst V, Chen J, Print C, Dunbar PR (2016) AHNAK is downregulated in melanoma, predicts poor outcome, and may be required for the expression of functional cadherin-1. Melanoma Res 26(2):108–116
James MR, Richard CW 3rd, Schott JJ, Yousry C, Clark K, Bell J, Terwilliger JD, Hazan J, Dubay C, Vignal A et al (1994) A radiation hybrid map of 506 STS markers spanning human chromosome 11. Nat Genet 8(1):70–76
Hohaus A, Person V, Behlke J, Schaper J, Morano I, Haase H (2002) The carboxyl-terminal region of ahnak provides a link between cardiac L-type Ca2+ channels and the actin-based cytoskeleton. FASEB J 16(10):1205–1216
Author information
Authors and Affiliations
Contributions
RN and PK designed the study and wrote the abstract, introduction, case report, discussion, and conclusion. IJ reviewed and edited the manuscript.
Corresponding author
Ethics declarations
Conflict of interest
The authors declare no competing interests.
Additional information
Publisher's note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Rights and permissions
About this article
Cite this article
Khoshnoodi, P., John, I. & Naous, R. Synchronous polyostotic solid variant of aneurysmal bone cyst involving thoracic vertebrae and harboring a novel AHNAK::USP6 gene fusion. A case report and review. Virchows Arch 481, 805–809 (2022). https://doi.org/10.1007/s00428-022-03362-z
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00428-022-03362-z