STBT5:Osteofibrous dysplasia: Difference between revisions
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<nowiki>*</nowiki>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 [[Leadership|''<u>Associate Editor</u>'']] 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. | <nowiki>*</nowiki>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 [[Leadership|''<u>Associate Editor</u>'']] 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. | ||
Latest revision as of 12:50, 22 October 2025
Soft Tissue and Bone Tumours (Who Classification, 5th ed.)
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 | Osteofibrous dysplasia |
| Subtype(s) | N/A |
Related Terminology
| Acceptable | N/A |
| Not Recommended | Ossifying fibroma of long bones; Kempson–Campanacci lesion |
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 |
|---|---|---|---|---|---|---|---|
| N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A |
Individual Region Genomic Gain/Loss/LOH
| 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
| 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)
| 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 |
|---|---|---|---|---|---|---|
| MET | Exon 14 skipping (activating) | Oncogene | Recurrent | D | No | Exon 14 of MET encodes a regulatory domain which signals for polyubiquitination and degradation of MET following phosphorylation of Tyr1003. However, exon 14 skipping events result in a loss of Tyr1003, impaired degradation, and oncogenic activation of MET signaling.[1][2] Of note, only relatively few germline cases have been reported in the literature and a somatic alteration (p.Tyr1003Ser) has been reported in a single sample.[2] The prevalence may be under-represented. |
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 |
|---|---|---|
| MET; Activating exon 14 skipping | RAS/MAPK, PI3K/AKT signaling | Increased cell growth and proliferation[1] |
Genetic Diagnostic Testing Methods
DNA sequencing may identify variation resulting in exon 14 skipping. Transcriptome analysis would be recommended to confirm alternative splicing.
Familial Forms
Germline alterations in MET which result in exon 14 skipping have been shown to be associated with familial osteofibrous dysplasia.[2]
Additional Information
Not applicable
Links
None
References
- ↑ 1.0 1.1 Ghosh, Promita; et al. (2025-09-09). "Mechanistic insights into MET exon 14 skipping mutations and their role in tumor progression". Biochemical Society Transactions: BST20253091. doi:10.1042/BST20253091. ISSN 1470-8752. PMID 40924941 Check
|pmid=value (help). - ↑ 2.0 2.1 2.2 Gray, Mary J.; et al. (2015-12-03). "Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia". American Journal of Human Genetics. 97 (6): 837–847. doi:10.1016/j.ajhg.2015.11.001. ISSN 1537-6605. PMC 4678433. PMID 26637977.
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: “Osteofibrous dysplasia”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated 10/22/2025, https://ccga.io/index.php/STBT5:Osteofibrous dysplasia.