Haemangioma of bone
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 | Vascular tumours of bone |
| Type | Haemangioma of bone |
| Subtype(s) | N/A |
Related Terminology
| Acceptable | Gorham–Stout syndrome; massive osteolysis; cystic angiomatosis |
| Not Recommended | N/A |
Gene Rearrangements
Currently, there are no gene rearrangements associated wtih haemangioma of bone. However, a few reports of NFATC1 and NFATC2 fused with EWSR1 or FUS have been described and likely represent a distinct epithelioid vascular neoplasm[1][2][3].
| 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 |
|---|---|---|---|---|---|---|---|
| N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A |
Individual Region Genomic Gain/Loss/LOH
None
| 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 |
|---|---|---|---|---|---|---|
| N/A | N/A | N/A | N/A | N/A | N/A | N/A |
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 |
|---|---|---|---|---|---|
| N/A | N/A | N/A | N/A | N/A | N/A |
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 |
|---|---|---|---|---|---|---|
| N/A | N/A | N/A | N/A | N/A | N/A | N/A |
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 |
|---|---|---|
| N/A | N/A | N/A |
Genetic Diagnostic Testing Methods
Not applicable
Familial Forms
None
Additional Information
The role of genetics in the development of haemangioma of bone has not yet been determined.
Links
None
References
- ↑ Dashti, Nooshin K.; et al. (2024-04-01). "Vascular Neoplasms With NFATC1/C2 Gene Alterations : Expanding the Clinicopathologic and Molecular Characteristics of a Distinct Entity". The American Journal of Surgical Pathology. 48 (4): 487–496. doi:10.1097/PAS.0000000000002175. ISSN 1532-0979. PMC 11591551 Check
|pmc=value (help). PMID 38189436 Check|pmid=value (help). - ↑ Dashti, Nooshin K.; et al. (2021-11). "A unique epithelioid vascular neoplasm of bone characterized by EWSR1/FUS-NFATC1/2 fusions". Genes, Chromosomes & Cancer. 60 (11): 762–771. doi:10.1002/gcc.22984. ISSN 1098-2264. PMC 8722818 Check
|pmc=value (help). PMID 34310785 Check|pmid=value (help). Check date values in:|date=(help) - ↑ Arbajian, Elsa; et al. (2013-04). "A benign vascular tumor with a new fusion gene: EWSR1-NFATC1 in hemangioma of the bone". The American Journal of Surgical Pathology. 37 (4): 613–616. doi:10.1097/PAS.0b013e31827ae13b. ISSN 1532-0979. PMID 23480895. 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: “Haemangioma of bone”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated 02/25/2026, https://ccga.io/index.php/STBT5:Haemangioma of bone.