Simple bone cyst
Primary Author(s)*
Kathleen Schieffer, PhD, FACMG
WHO Classification of Disease
| Structure | Disease |
|---|---|
| Book | Soft Tissue and Bone Tumours (5th ed.) |
| Category | Bone tumours |
| Family | Other mesenchymal tumours of bone |
| Type | Simple bone cyst |
| Subtype(s) | N/A |
Related Terminology
| Acceptable | Solitary bone cyst |
| Not Recommended | Unicameral bone cyst |
Gene Rearrangements
| Driver Gene | Fusion(s) and Common Partner Genes | Molecular Pathogenesis | Typical Chromosomal Alteration(s) | Prevalence -Common >20%, Recurrent 5-20% or Rare <5% (Disease) | Diagnostic, Prognostic, and Therapeutic Significance - D, P, T | Established Clinical Significance Per Guidelines - Yes or No (Source) | Clinical Relevance Details/Other Notes |
|---|---|---|---|---|---|---|---|
| NFATC2 | EWSR1, FUS | In-frame fusion that retains the N-terminal domain of EWSR1 or FUS and the DNA-binding domain of the transcription factor, NFATC2. It is predicted that the truncated NFATC2 protein, which has lost the regulatory domain as a result of the fusion, leads to constitutive activation of this transcription factor and downstream signaling.[1] The breakpoints typically involve exon 6 of EWSR1 (NM_005243.4) or exon 6 of FUS (NM_004960.4) and exon 3 of NFATC2 (NM_012340.5).[1][2][3] | t(16;20)(p11.2;q13) [FUS::NFATC2] | Recurrent* | D | No | Early cytogenetic analysis identified a t(16;20)(p11.2;q13) in a single simple bone cyst specimen.[4] Molecular studies identified a recurrent fusion between either EWSR1 or FUS and NFATC2.[1][2][3] |
*Please note that limited studies have been performed from simple bone cysts and the prevalence requires additional study.
Individual Region Genomic Gain/Loss/LOH
No recurrent copy number findings are described. A single report of cytogenetic complexity have been described.[5]
| Chr # | Gain, Loss, Amp, LOH | Minimal Region Cytoband and/or Genomic Coordinates [Genome Build; Size] | Relevant Gene(s) | Diagnostic, Prognostic, and Therapeutic Significance - D, P, T | Established Clinical Significance Per Guidelines - Yes or No (Source) | Clinical Relevance Details/Other Notes |
|---|---|---|---|---|---|---|
Characteristic Chromosomal or Other Global Mutational Patterns
None
| Chromosomal Pattern | Molecular Pathogenesis | Prevalence -
Common >20%, Recurrent 5-20% or Rare <5% (Disease) |
Diagnostic, Prognostic, and Therapeutic Significance - D, P, T | Established Clinical Significance Per Guidelines - Yes or No (Source) | Clinical Relevance Details/Other Notes |
|---|---|---|---|---|---|
Gene Mutations (SNV/INDEL)
None
| Gene | Genetic Alteration | Tumor Suppressor Gene, Oncogene, Other | Prevalence -
Common >20%, Recurrent 5-20% or Rare <5% (Disease) |
Diagnostic, Prognostic, and Therapeutic Significance - D, P, T | Established Clinical Significance Per Guidelines - Yes or No (Source) | Clinical Relevance Details/Other Notes |
|---|---|---|---|---|---|---|
Note: A more extensive list of mutations can be found in cBioportal, COSMIC, and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.
Epigenomic Alterations
None
Genes and Main Pathways Involved
None
| Gene; Genetic Alteration | Pathway | Pathophysiologic Outcome |
|---|---|---|
Genetic Diagnostic Testing Methods
- Fusion testing
- Targeted sequencing (such as RT-PCR or targeted next-generation sequencing (NGS) panels)
- For targeted NGS panels, consider if the assay requires both gene partners to be included on the panel or if it is able to identify novel fusions as long as one of the partners is included on the panel
- Whole transcriptome RNA-sequencing
- Provides an unbiased approach to fusion calling
- Targeted sequencing (such as RT-PCR or targeted next-generation sequencing (NGS) panels)
Familial Forms
Not applicable
Additional Information
Not applicable
Links
None
References
- ↑ 1.0 1.1 1.2 Pižem, Jože; et al. (2020-12). "FUS-NFATC2 or EWSR1-NFATC2 Fusions Are Present in a Large Proportion of Simple Bone Cysts". The American Journal of Surgical Pathology. 44 (12): 1623–1634. doi:10.1097/PAS.0000000000001584. ISSN 1532-0979. PMID 32991339 Check
|pmid=value (help). Check date values in:|date=(help) - ↑ 2.0 2.1 Hung, Yin P.; et al. (2021-05). "Identification of EWSR1-NFATC2 fusion in simple bone cysts". Histopathology. 78 (6): 849–856. doi:10.1111/his.14314. ISSN 1365-2559. PMID 33316098 Check
|pmid=value (help). Check date values in:|date=(help) - ↑ 3.0 3.1 Pižem, Jože; et al. (2021-10). "The role of molecular diagnostics in aneurysmal and simple bone cysts - a prospective analysis of 19 lesions". Virchows Archiv: An International Journal of Pathology. 479 (4): 795–802. doi:10.1007/s00428-021-03130-5. ISSN 1432-2307. PMID 34089379 Check
|pmid=value (help). Check date values in:|date=(help) - ↑ Richkind, Kathleen E.; et al. (2002-09). "Translocation (16;20)(p11.2;q13). sole cytogenetic abnormality in a unicameral bone cyst". Cancer Genetics and Cytogenetics. 137 (2): 153–155. doi:10.1016/s0165-4608(02)00563-0. ISSN 0165-4608. PMID 12393289. Check date values in:
|date=(help) - ↑ Vayego, S. A.; et al. (1996-01). "Complex cytogenetic rearrangement in a case of unicameral bone cyst". Cancer Genetics and Cytogenetics. 86 (1): 46–49. doi:10.1016/0165-4608(95)00156-5. ISSN 0165-4608. PMID 8616785. Check date values in:
|date=(help)
Notes
*Primary authors will typically be those that initially create and complete the content of a page. If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the Associate Editor or other CCGA representative. When pages have a major update, the new author will be acknowledged at the beginning of the page, and those who contributed previously will be acknowledged below as a prior author.
Prior Author(s): *Citation of this Page: “Simple bone cyst”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated 10/22/2025, https://ccga.io/index.php/STBT5:Simple bone cyst.