Unchecked

Fibroadenoma

From Compendium of Cancer Genome Aberrations
Jump to navigation Jump to search


Breast Tumours (WHO Classification, 5th ed.)

Primary Author(s)*[edit | edit source]

H. Evin Gulbahce, MD and Katherine Geiersbach, MD

WHO Classification of Disease[edit | edit source]

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

Related Terminology[edit | edit source]

Acceptable N/A
Not Recommended Adenofibroma

Gene Rearrangements[edit | edit source]


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[edit | edit source]


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[edit | edit source]


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)[edit | edit source]


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[edit | edit source]


Genes and Main Pathways Involved[edit | edit source]


Gene; Genetic Alteration Pathway Pathophysiologic Outcome

Genetic Diagnostic Testing Methods[edit | edit source]

Next generation sequencing, PCR based testing with Sanger sequencing.

Familial Forms[edit | edit source]

Women with Carney complex due to an inherited pathogenic variant in PRKAR1A can develop myxoid fibroadenomas, which appear genetically distinct from conventional fibroadenomas.[5][6] Beckwith-Wiedemann syndrome has been associated with the development of fibroadenomas in young patients.[7][8]

Additional Information[edit | edit source]


Links[edit | edit source]

https://www.pathologyoutlines.com/topic/breastfibroadenoma.html

References[edit | edit source]


Notes[edit | edit source]

*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 07/3/2025, https://ccga.io/index.php/BRST5:Fibroadenoma.

  1. ↑ 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)
  2. ↑ 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. ↑ 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)
  4. ↑ 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)
  5. ↑ Carney, J. A.; et al. (1991-08). "Myxoid fibroadenoma and allied conditions (myxomatosis) of the breast. A heritable disorder with special associations including cardiac and cutaneous myxomas". The American Journal of Surgical Pathology. 15 (8): 713–721. doi:10.1097/00000478-199108000-00001. ISSN 0147-5185. PMID 2069209. Check date values in: |date= (help)
  6. ↑ Lozada, John R.; et al. (2017-10). "Myxoid fibroadenomas differ from conventional fibroadenomas: a hypothesis-generating study". Histopathology. 71 (4): 626–634. doi:10.1111/his.13258. ISSN 1365-2559. PMC 5597459. PMID 28513873. Check date values in: |date= (help)
  7. ↑ Poh, Melissa M.; et al. (2010-06). "Beckwith-Wiedemann syndrome and juvenile fibroadenoma: a case report". Annals of Plastic Surgery. 64 (6): 803–806. doi:10.1097/sap.0b013e3181b025f6. ISSN 1536-3708. PMID 20506580. Check date values in: |date= (help)
  8. ↑ Raine, P. A.; et al. (1979-04). "Breast fibroadenoma and cardiac anomaly associated with EMG (Beckwith-Wiedemann) syndrome". The Journal of Pediatrics. 94 (4): 633–634. doi:10.1016/s0022-3476(79)80039-6. ISSN 0022-3476. PMID 430311. Check date values in: |date= (help)
Retrieved from "https://test.ccga.io/index.php/BRST5:Fibroadenoma"