Fibroadenoma
Primary Author(s)*
H. Evin Gulbahce, MD and Katherine Geiersbach, MD
WHO Classification of Disease
| Structure | Disease |
|---|---|
| Book | Breast Tumours (5th ed.) |
| Category | Fibroepithelial tumours and hamartomas of the breast |
| Family | Fibroepithelial tumours and hamartomas of the breast: Introduction |
| Type | Fibroadenoma |
| Subtype(s) | N/A |
WHO Essential and Desirable Genetic Diagnostic Criteria
| WHO Essential Criteria (Genetics)* | |
| WHO Desirable Criteria (Genetics)* | |
| Other Classification |
*Note: These are only the genetic/genomic criteria. Additional diagnostic criteria can be found in the WHO Classification of Tumours.
Related Terminology
| Acceptable | |
| Not Recommended |
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 |
|---|---|---|---|---|---|---|---|
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 |
|---|---|---|---|---|---|---|
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 |
|---|---|---|---|---|---|
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 |
|---|---|---|---|---|---|---|
| MED12 | Oncogene | Common | D | G44 hotspot mutations[1][2] | ||
| TERT | Oncogene | Recurrent | Associated with juvenile fibroadenoma[3] | |||
| RARA | Oncogene | Recurrent | Frequently co-mutated with MED12[4] | |||
| EGFR | Oncogene | Rare | ||||
| TP53 | Tumor Suppressor Gene | Common | Associated with juvenile fibroadenoma and stromal PASH-like changes[3] | |||
| PIK3CA | Oncogene | Rare | ||||
| KMT2D | Tumor Suppressor Gene | Recurrent | ||||
| NF1 | Tumor Suppressor Gene | Rare | ||||
| SETD2 | Other | Common | D | Associated with juvenile fibroadenoma and PASH-like changes[3] | ||
| FLNA | Oncogene | Common | D | Associated with juvenile fibroadenoma[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
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Genes and Main Pathways Involved
Put your text here and fill in the table (Instructions: Please include references throughout the table. Do not delete the table.)
| Gene; Genetic Alteration | Pathway | Pathophysiologic Outcome |
|---|---|---|
Genetic Diagnostic Testing Methods
Familial Forms
Additional Information
Links
https://www.pathologyoutlines.com/topic/breastfibroadenoma.html
References
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: “Fibroadenoma”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated 05/1/2025, https://ccga.io/index.php/BRST5:Fibroadenoma.
- ↑ Tan, Jing; et al. (2015-11). "Genomic landscapes of breast fibroepithelial tumors". Nature Genetics. 47 (11): 1341–1345. doi:10.1038/ng.3409. ISSN 1546-1718. PMID 26437033. Check date values in:
|date=(help) - ↑ Sim, Yirong; et al. (2019-10-23). "A novel genomic panel as an adjunctive diagnostic tool for the characterization and profiling of breast Fibroepithelial lesions". BMC medical genomics. 12 (1): 142. doi:10.1186/s12920-019-0588-2. ISSN 1755-8794. PMC 6813086. PMID 31647027.
- ↑ 3.0 3.1 3.2 3.3 Jorns, Julie M.; et al. (2023-09). "Giant juvenile fibroadenomas with and without prominent pseudoangiomatous stromal hyperplasia (PASH)-like change: clinicopathological and molecular characteristics". Histopathology. 83 (3): 357–365. doi:10.1111/his.14935. ISSN 1365-2559. PMID 37140543 Check
|pmid=value (help). Check date values in:|date=(help) - ↑ Tan, Jing; et al. (2015-11). "Genomic landscapes of breast fibroepithelial tumors". Nature Genetics. 47 (11): 1341–1345. doi:10.1038/ng.3409. ISSN 1546-1718. PMID 26437033. Check date values in:
|date=(help)