Chondroblastoma
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 | Chondrogenic tumours |
| Type | Chondroblastoma |
| Subtype(s) | N/A |
Related Terminology
| Acceptable | N/A |
| Not Recommended | N/A |
Gene Rearrangements
None
| 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)
Chondroblastomas typically harbor a hostpot variant in H3-3B (NM_005324.5) p.Lys37Met or less frequently H3-3A (NM_002107.7) p.Lys37Met. Most of the literature for this tumor references the p.Lys36Met (K36M) variant which is synonymous to p.Lys37Met (K37M).
| 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 |
|---|---|---|---|---|---|---|
| H3-3B (H3F3B) or less commonly H3-3A (H3F3A) | p.Lys37Met (K37M)
(commonly referred to using historical nomenclature as p.Lys36Met [K36M]) |
Other - histone H3.3 variant | Common | D | Yes (WHO) | The H3-3B p.Lys37Met (Lys36Met) variant is observed in nearly 95% of chondroblastomas, with the H3-3A p.Lys37Met (Lys36Met) variant being observed less frequently[1][2][3]. |
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
| Gene; Genetic Alteration | Pathway | Pathophysiologic Outcome |
|---|---|---|
| H3-3B and H3-3A | Histone modification | Altered methylation at Histone H3.3 K36M[4][5] |
Genetic Diagnostic Testing Methods
- Targeted sequencing
- Targeted sequencing methods for H3-3B p.Lys37Met will detect the majority of cases. Reflex testing to H3-3A p.Lys37Met targeted sequencing could be considered.
Familial Forms
None
Additional Information
None
Links
None
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: “Chondroblastoma”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated 11/14/2025, https://ccga.io/index.php/STBT5:Chondroblastoma.
References
- ↑ Behjati, Sam; et al. (2013-12). "Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone". Nature Genetics. 45 (12): 1479–1482. doi:10.1038/ng.2814. ISSN 1546-1718. PMC 3839851. PMID 24162739. Check date values in:
|date=(help) - ↑ Amary, M. Fernanda; et al. (2016-07). "The H3F3 K36M mutant antibody is a sensitive and specific marker for the diagnosis of chondroblastoma". Histopathology. 69 (1): 121–127. doi:10.1111/his.12945. ISSN 1365-2559. PMID 26844533. Check date values in:
|date=(help) - ↑ Cleven, Arjen H. G.; et al. (2015-11). "Mutation Analysis of H3F3A and H3F3B as a Diagnostic Tool for Giant Cell Tumor of Bone and Chondroblastoma". The American Journal of Surgical Pathology. 39 (11): 1576–1583. doi:10.1097/PAS.0000000000000512. ISSN 1532-0979. PMID 26457357. Check date values in:
|date=(help) - ↑ Cleven, Arjen H. G.; et al. (2015-11). "Mutation Analysis of H3F3A and H3F3B as a Diagnostic Tool for Giant Cell Tumor of Bone and Chondroblastoma". The American Journal of Surgical Pathology. 39 (11): 1576–1583. doi:10.1097/PAS.0000000000000512. ISSN 1532-0979. PMID 26457357. Check date values in:
|date=(help) - ↑ Behjati, Sam; et al. (2013-12). "Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone". Nature Genetics. 45 (12): 1479–1482. doi:10.1038/ng.2814. ISSN 1546-1718. PMC 3839851. PMID 24162739. Check date values in:
|date=(help)