J Pathol Transl Med.  2023 Mar;57(2):81-87. 10.4132/jptm.2023.02.23.

Aneurysmal bone cyst: a review

• Nasri E
• Reith JD

• KMID: 2540493
• DOI: http://doi.org/10.4132/jptm.2023.02.23

Abstract

Aneurysmal bone cyst (ABC) is a benign locally destructive bone neoplasm composed of multi-loculated blood-filled cystic spaces. The most common sites of involvement are the meta-diaphysis of the long bones and posterior elements of the vertebrae. Secondary, ABC-like changes can complicate a variety of other benign and malignant primary bone neoplasms, including giant cell tumor, fibrous dysplasia, and osteosarcoma. About two-third of primary ABCs have a rearrangement of the USP6 gene, which is not present in the ABC-like changes that occur secondary to other primary bone tumors (i.e., secondary ABC). Primary ABC of bone carries a variable but generally high rate of local recurrence. This paper provides an overview of the pathophysiology, clinical presentation, radiographic and pathologic findings, treatment, and prognosis of ABC.

Keyword

Bone cyst; Aneurysmal bone cyst; gene

Figure

• 

  Fig. 1. Plain radiography of aneurysmal bone cyst. (A) X-ray demonstrates a lytic lesion in the proximal metaphysis of the tibia with slight expansile features and lucency extending through the cortex. (B) X-ray shows an expansile lucent lesion centered in the medullary cavity of the proximal humeral metaphysis with cortical thinning. (C) X-ray shows an eccentric lucent lesion of the medial side of the distal tibia. (D) X-ray shows an expansile multiloculated lucent lesion of the calcaneus.

• 

  Fig. 2. Computed tomography (CT) and magnetic resonance imaging (MRI) of aneurysmal bone cyst. (A) CT scan shows a well-demarcated ovoid area of lucency within the medial aspect of the distal tibia. (B, C) MRI shows an expansile well-demarcated cystic lesion of the proximal tibia with fluid-fluid levels. (D) Sagittal view T2 MRI demonstrates multiple fluid-fluid levels of the cyst involving the calcaneus bone.

• 

  Fig. 3. Gross findings of aneurysmal bone cyst (ABC). (A) ABC involving the distal fibula, showing an expansile lesion with multiple bloodfilled cystic spaces. (B) ABC involving tibia, showing an expansile lesion with multiple blood-filled cystic spaces.

• 

  Fig. 4. Frozen section findings of aneurysmal bone cyst. (A) Frozen section of a multiloculated cystic lesion of the distal tibia. Cystic space with flat attenuated lining and increased stromal giant cells. (B) The solid area shows scattered giant cells in the background of fibrovascular stroma. Cellular atypia is not present.

• 

  Fig. 5. Histologic features of aneurysmal bone cyst. (A) Irregular cystic spaces with multi-nucleated giant cells are present. (B) Multiple irregular cystic spaces, some filled with blood, and a variable number of giant cells in the cyst wall. (C) Blood-filled cystic spaces with cellular giant cell-rich cyst wall. (D) Cystic spaces and portion of cyst wall with scattered giant cells. No significant atypia is present.

• 

  Fig. 6. Blue reticulated chondroid-like material. (A, B) Cyst wall with “blue reticulated chondroid-like material” and hemosiderin deposition.

Reference

References

1. Zehetgruber H, Bittner B, Gruber D, et al. Prevalence of aneurysmal and solitary bone cysts in young patients. Clin Orthop Relat Res. 2005; 439:136–43.

2. Leithner A, Windhager R, Lang S, Haas OA, Kainberger F, Kotz R. Aneurysmal bone cyst: a population based epidemiologic study and literature review. Clin Orthop Relat Res. 1999; (363):176–9.

3. Czerniak B. Dorfman and Czerniak’s bone tumors, E-Book. 2nd. Philadelphia: Elsevier Health Sciences;2015.

4. Martinez V, Sissons HA. Aneurysmal bone cyst: a review of 123 cases including primary lesions and those secondary to other bone pathology. Cancer. 1988; 61:2291–304.

5. Vergel De Dios AM, Bond JR, Shives TC, McLeod RA, Unni KK. Aneurysmal bone cyst: a clinicopathologic study of 238 cases. Cancer. 1992; 69:2921–31.

6. Kransdorf MJ, Sweet DE. Aneurysmal bone cyst: concept, controversy, clinical presentation, and imaging. AJR Am J Roentgenol. 1995; 164:573–80.

7. Althof PA, Ohmori K, Zhou 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; 17:518–25.

8. Ye Y, Pringle LM, Lau AW, et al. TRE17/USP6 oncogene translocated in aneurysmal bone cyst induces matrix metalloproteinase production via activation of NF-kappaB. Oncogene. 2010; 29:3619–29.

9. Oliveira AM, Chou MM. USP6-induced neoplasms: the biologic spectrum of aneurysmal bone cyst and nodular fasciitis. Hum Pathol. 2014; 45:1–11.

10. Weber MG, Fan J, Jenkins R. An Uncommon presentation of an uncommon bone tumor: a case study of a pathologic fracture of an intertrochanteric aneurysmal bone cyst. Cureus. 2019; 11:e6461.

11. Novais EN, Rose PS, Yaszemski MJ, Sim FH. Aneurysmal bone cyst of the cervical spine in children. J Bone Joint Surg Am. 2011; 93:1534–43.

12. Papagelopoulos PJ, Currier BL, Shaughnessy WJ, et al. Aneurysmal bone cyst of the spine: management and outcome. Spine (Phila Pa 1976). 1998; 23:621–8.

13. Revel MP, Vanel D, Sigal R, et al. Aneurysmal bone cysts of the jaws: CT and MR findings. J Comput Assist Tomogr. 1992; 16:84–6.

14. Mahnken AH, Nolte-Ernsting CC, Wildberger JE, et al. Aneurysmal bone cyst: value of MR imaging and conventional radiography. Eur Radiol. 2003; 13:1118–24.

15. Bahk WJ, Mirra JM. Differential diagnostic value of “blue reticulated chondroid-like material” in aneurysmal bone cysts: a classic histopathologic analysis of 215 cases. Am J Clin Pathol. 2015; 143:823–9.

16. Wang JC, Li WS, Kao YC, et al. Clinicopathological and molecular characterisation of USP6-rearranged soft tissue neoplasms: the evidence of genetic relatedness indicates an expanding family with variable bone-forming capacity. Histopathology. 2021; 78:676–89.

17. Sekoranja D, Zupan A, Mavcic B, et al. Novel ASAP1-USP6, FAT1-USP6, SAR1A-USP6, and TNC-USP6 fusions in primary aneurysmal bone cyst. Genes Chromosomes Cancer. 2020; 59:357–65.

18. Guseva NV, Jaber O, Tanas MR, et al. Anchored multiplex PCR for targeted next-generation sequencing reveals recurrent and novel USP6 fusions and upregulation of USP6 expression in aneurysmal bone cyst. Genes Chromosomes Cancer. 2017; 56:266–77.

19. Blackburn PR, Davila JI, Jackson RA, et al. RNA sequencing identifies a novel USP9X-USP6 promoter swap gene fusion in a primary aneurysmal bone cyst. Genes Chromosomes Cancer. 2019; 58:589–94.

20. Warren M, Xu D, Li X. Gene fusions PAFAH1B1-USP6 and RUNX2-USP6 in aneurysmal bone cysts identified by next generation sequencing. Cancer Genet. 2017; 212-213:13–8.

21. Mantilla JG, Gross JM, Liu YJ, Hoch BL, Ricciotti RW. Characterization of novel USP6 gene rearrangements in a subset of so-called cellular fibroma of tendon sheath. Mod Pathol. 2021; 34:13–9.

22. Svajdler M, Michal M, Martinek P, et al. Fibro-osseous pseudotumor of digits and myositis ossificans show consistent COL1A1-USP6 rearrangement: a clinicopathological and genetic study of 27 cases. Hum Pathol. 2019; 88:39–47.

23. Patel NR, Chrisinger JSA, Demicco EG, et al. USP6 activation in nodular fasciitis by promoter-swapping gene fusions. Mod Pathol. 2017; 30:1577–88.

24. Nakayama S, Nishio J, Aoki M, Koga K, Nabeshima K, Yamamoto T. Ubiquitin-specific peptidase 6 (USP6)-associated fibroblastic/myofibroblastic tumors: evolving concepts. Cancer Genomics Proteomics. 2021; 18:93–101.

25. Lee JC, Huang HY. Soft tissue special issue: giant cell-rich lesions of the head and neck region. Head Neck Pathol. 2020; 14:97–108.

26. Campanacci M, Capanna R, Picci P. Unicameral and aneurysmal bone cysts. Clin Orthop Relat Res. 1986; (204):25–36.

27. Mankin HJ, Hornicek FJ, Ortiz-Cruz E, Villafuerte J, Gebhardt MC. Aneurysmal bone cyst: a review of 150 patients. J Clin Oncol. 2005; 23:6756–62.

28. Flont P, Kolacinska-Flont M, Niedzielski K. A comparison of cyst wall curettage and en bloc excision in the treatment of aneurysmal bone cysts. World J Surg Oncol. 2013; 11:109.

29. Shiels WE 2nd, Mayerson JL. Percutaneous doxycycline treatment of aneurysmal bone cysts with low recurrence rate: a preliminary report. Clin Orthop Relat Res. 2013; 471:2675–83.

30. Lange T, Stehling C, Frohlich B, et al. Denosumab: a potential new and innovative treatment option for aneurysmal bone cysts. Eur Spine J. 2013; 22:1417–22.

31. Cornelis F, Truchetet ME, Amoretti N, et al. Bisphosphonate therapy for unresectable symptomatic benign bone tumors: a long-term prospective study of tolerance and efficacy. Bone. 2014; 58:11–6.

32. Falappa P, Fassari FM, Fanelli A, et al. Aneurysmal bone cysts: treatment with direct percutaneous Ethibloc injection: long-term results. Cardiovasc Intervent Radiol. 2002; 25:282–90.

33. Varshney MK, Rastogi S, Khan SA, Trikha V. Is sclerotherapy better than intralesional excision for treating aneurysmal bone cysts? Clin Orthop Relat Res. 2010; 468:1649–59.

34. Rossi G, Rimondi E, Bartalena T, et al. Selective arterial embolization of 36 aneurysmal bone cysts of the skeleton with N-2-butyl cyanoacrylate. Skeletal Radiol. 2010; 39:161–7.

35. Bush CH, Adler Z, Drane WE, Tamurian R, Scarborough MT, Gibbs CP. Percutaneous radionuclide ablation of axial aneurysmal bone cysts. AJR Am J Roentgenol. 2010; 194:W84–90.

36. Gibbs CP Jr, Hefele MC, Peabody TD, Montag AG, Aithal V, Simon MA. Aneurysmal bone cyst of the extremities. Factors related to local recurrence after curettage with a high-speed burr. J Bone Joint Surg Am. 1999; 81:1671–8.

37. van de Luijtgaarden AC, Veth RP, Slootweg PJ, et al. Metastatic potential of an aneurysmal bone cyst. Virchows Arch. 2009; 455:455–9.