BRST5:Fibroadenoma: Difference between revisions

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<span style="color:#0070C0">(''General Instructions – The focus of these pages is the clinically significant genetic alterations in each disease type. This is based on up-to-date knowledge from multiple resources such as PubMed and the WHO classification books. The CCGA is meant to be a supplemental resource to the WHO classification books; the CCGA captures in a continually updated wiki-stye manner the current genetics/genomics knowledge of each disease, which evolves more rapidly than books can be revised and published. If the same disease is described in multiple WHO classification books, the genetics-related information for that disease will be consolidated into a single main page that has this template (other pages would only contain a link to this main page). Use [https://www.genenames.org/ <u>HUGO-approved gene names and symbols</u>] (italicized when appropriate), [https://varnomen.hgvs.org/ <u>HGVS-based nomenclature for variants</u>], as well as generic names of drugs and testing platforms or assays if applicable. Please complete tables whenever possible and do not delete them (add N/A if not applicable in the table and delete the examples); to add (or move) a row or column in a table, click nearby within the table and select the > symbol that appears. Please do not delete or alter the section headings. The use of bullet points alongside short blocks of text rather than only large paragraphs is encouraged. Additional instructions below in italicized blue text should not be included in the final page content. Please also see'' </span><u>''[[Author_Instructions]]''</u><span style="color:#0070C0"> ''and [[Frequently Asked Questions (FAQs)|<u>FAQs</u>]] as well as contact your [[Leadership|<u>Associate Editor</u>]] or [mailto:CCGA@cancergenomics.org <u>Technical Support</u>].)''</span>
{{DISPLAYTITLE:Fibroadenoma}}
 
[[BRST5:Table_of_Contents|Breast Tumours (WHO Classification, 5th ed.)]]
==Primary Author(s)*==
==Primary Author(s)*==
Put your text here<span style="color:#0070C0"> (''<span class="blue-text">EXAMPLE:</span>'' Jane Smith, PhD) </span>
H. Evin Gulbahce, MD and Katherine Geiersbach, MD
==WHO Classification of Disease==
==WHO Classification of Disease==
<span style="color:#0070C0">(''Instructions: This table’s content from the WHO book will be <u>autocompleted</u>.'')</span>
 
{| class="wikitable"
{| class="wikitable"
!Structure
!Structure
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|-
|-
|Book
|Book
|
|Breast Tumours (5th ed.)
|-
|-
|Category
|Category
|
|Fibroepithelial tumours and hamartomas of the breast
|-
|-
|Family
|Family
|
|Fibroepithelial tumours and hamartomas of the breast: Introduction
|-
|-
|Type
|Type
|
|Fibroadenoma
|-
|-
|Subtype(s)
|Subtype(s)
|
|N/A
|}
|}
==WHO Essential and Desirable Genetic Diagnostic Criteria==
 
<span style="color:#0070C0">(''Instructions: The table will have the diagnostic criteria from the WHO book <u>autocompleted</u>; remove any <u>non</u>-genetics related criteria. If applicable, add text about other classification'' ''systems that define this entity and specify how the genetics-related criteria differ.'')</span>
{| class="wikitable"
|+
|WHO Essential Criteria (Genetics)*
|
|-
|WHO Desirable Criteria (Genetics)*
|
|-
|Other Classification
|
|}
<nowiki>*</nowiki>Note: These are only the genetic/genomic criteria. Additional diagnostic criteria can be found in the [https://tumourclassification.iarc.who.int/home <u>WHO Classification of Tumours</u>].
==Related Terminology==
==Related Terminology==
<span style="color:#0070C0">(''Instructions: The table will have the related terminology from the WHO <u>autocompleted</u>.)''</span>
 
{| class="wikitable"
{| class="wikitable"
|+
|+
|Acceptable
|Acceptable
|
|N/A
|-
|-
|Not Recommended
|Not Recommended
|
|Adenofibroma
|}
|}


==Gene Rearrangements==
==Gene Rearrangements==
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Details on clinical significance such as prognosis and other important information can be provided in the notes section. Please include references throughout the table. Do not delete the table.'')</span>
<br />
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
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!Clinical Relevance Details/Other Notes
!Clinical Relevance Details/Other Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span> ''ABL1''||<span class="blue-text">EXAMPLE:</span> ''BCR::ABL1''||<span class="blue-text">EXAMPLE:</span> The pathogenic derivative is the der(22) resulting in fusion of 5’ BCR and 3’ABL1.||<span class="blue-text">EXAMPLE:</span> t(9;22)(q34;q11.2)
|
|<span class="blue-text">EXAMPLE:</span> Common (CML)
|
|<span class="blue-text">EXAMPLE:</span> D, P, T
|
|<span class="blue-text">EXAMPLE:</span> Yes (WHO, NCCN)
|
|<span class="blue-text">EXAMPLE:</span>
|
The t(9;22) is diagnostic of CML in the appropriate morphology and clinical context (add reference). This fusion is responsive to targeted therapy such as Imatinib (Gleevec) (add reference). BCR::ABL1 is generally favorable in CML (add reference).
|
|
|
|-
|-
|<span class="blue-text">EXAMPLE:</span> ''CIC''
|<span class="blue-text">EXAMPLE:</span> ''CIC::DUX4''
|<span class="blue-text">EXAMPLE:</span> Typically, the last exon of ''CIC'' is fused to ''DUX4''. The fusion breakpoint in ''CIC'' is usually intra-exonic and removes an inhibitory sequence, upregulating ''PEA3'' genes downstream of ''CIC'' including ''ETV1'', ''ETV4'', and ''ETV5''.
|<span class="blue-text">EXAMPLE:</span> t(4;19)(q25;q13)
|<span class="blue-text">EXAMPLE:</span> Common (CIC-rearranged sarcoma)
|<span class="blue-text">EXAMPLE:</span> D
|
|
|<span class="blue-text">EXAMPLE:</span>
''DUX4'' has many homologous genes; an alternate translocation in a minority of cases is t(10;19), but this is usually indistinguishable from t(4;19) by short-read sequencing (add references).
|-
|<span class="blue-text">EXAMPLE:</span> ''ALK''
|<span class="blue-text">EXAMPLE:</span> ''ELM4::ALK''
Other fusion partners include ''KIF5B, NPM1, STRN, TFG, TPM3, CLTC, KLC1''
|<span class="blue-text">EXAMPLE:</span> Fusions result in constitutive activation of the ''ALK'' tyrosine kinase. The most common ''ALK'' fusion is ''EML4::ALK'', with breakpoints in intron 19 of ''ALK''. At the transcript level, a variable (5’) partner gene is fused to 3’ ''ALK'' at exon 20. Rarely, ''ALK'' fusions contain exon 19 due to breakpoints in intron 18.
|<span class="blue-text">EXAMPLE:</span> N/A
|<span class="blue-text">EXAMPLE:</span> Rare (Lung adenocarcinoma)
|<span class="blue-text">EXAMPLE:</span> T
|
|
|<span class="blue-text">EXAMPLE:</span>
|
 
|
Both balanced and unbalanced forms are observed by FISH (add references).
|
|-
|
|<span class="blue-text">EXAMPLE:</span> ''ABL1''
|<span class="blue-text">EXAMPLE:</span> N/A
|<span class="blue-text">EXAMPLE:</span> Intragenic deletion of exons 2–7 in ''EGFR'' removes the ligand-binding domain, resulting in a constitutively active tyrosine kinase with downstream activation of multiple oncogenic pathways.
|<span class="blue-text">EXAMPLE:</span> N/A
|<span class="blue-text">EXAMPLE:</span> Recurrent (IDH-wildtype Glioblastoma)
|<span class="blue-text">EXAMPLE:</span> D, P, T
|
|
|
|
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|}
|}
==Individual Region Genomic Gain/Loss/LOH==
==Individual Region Genomic Gain/Loss/LOH==
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Includes aberrations not involving gene rearrangements. Details on clinical significance such as prognosis and other important information can be provided in the notes section. Can refer to CGC workgroup tables as linked on the homepage if applicable. Please include references throughout the table. Do not delete the table.'') </span>
<br />
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Chr #!!'''Gain, Loss, Amp, LOH'''!!'''Minimal Region Cytoband and/or Genomic Coordinates [Genome Build; Size]'''!!'''Relevant Gene(s)'''
!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'''
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
!'''Established Clinical Significance Per Guidelines - Yes or No (Source)'''
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!'''Clinical Relevance Details/Other Notes'''
!Clinical Relevance Details/Other Notes
|-
|<span class="blue-text">EXAMPLE:</span>
7
|<span class="blue-text">EXAMPLE:</span> Loss
|<span class="blue-text">EXAMPLE:</span>
chr7
|<span class="blue-text">EXAMPLE:</span>
Unknown
|<span class="blue-text">EXAMPLE:</span> D, P
|<span class="blue-text">EXAMPLE:</span> No
|<span class="blue-text">EXAMPLE:</span>
Presence of monosomy 7 (or 7q deletion) is sufficient for a diagnosis of AML with MDS-related changes when there is ≥20% blasts and no prior therapy (add reference).  Monosomy 7/7q deletion is associated with a poor prognosis in AML (add references).
|-
|<span class="blue-text">EXAMPLE:</span>
8
|<span class="blue-text">EXAMPLE:</span> Gain
|<span class="blue-text">EXAMPLE:</span>
chr8
|<span class="blue-text">EXAMPLE:</span>
Unknown
|<span class="blue-text">EXAMPLE:</span> D, P
|
|<span class="blue-text">EXAMPLE:</span>
Common recurrent secondary finding for t(8;21) (add references).
|-
|<span class="blue-text">EXAMPLE:</span>
17
|<span class="blue-text">EXAMPLE:</span> Amp
|<span class="blue-text">EXAMPLE:</span>
17q12; chr17:39,700,064-39,728,658 [hg38; 28.6 kb]
|<span class="blue-text">EXAMPLE:</span>
''ERBB2''
|<span class="blue-text">EXAMPLE:</span> D, P, T
|
|<span class="blue-text">EXAMPLE:</span>
Amplification of ''ERBB2'' is associated with HER2 overexpression in HER2 positive breast cancer (add references). Add criteria for how amplification is defined.
|-
|-
|
|
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|}
|}
==Characteristic Chromosomal or Other Global Mutational Patterns==
==Characteristic Chromosomal or Other Global Mutational Patterns==
Put your text here and fill in the table <span style="color:#0070C0">(I''nstructions: Included in this category are alterations such as hyperdiploid; gain of odd number chromosomes including typically chromosome 1, 3, 5, 7, 11, and 17; co-deletion of 1p and 19q; complex karyotypes without characteristic genetic findings; chromothripsis; microsatellite instability; homologous recombination deficiency; mutational signature pattern; etc. Details on clinical significance such as prognosis and other important information can be provided in the notes section. Please include references throughout the table. Do not delete the table.'')</span>
<br />
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Chromosomal Pattern
!Chromosomal Pattern
!Molecular Pathogenesis
!Molecular Pathogenesis
!'''Prevalence -'''
!Prevalence -  
'''Common >20%, Recurrent 5-20% or Rare <5% (Disease)'''
Common >20%, Recurrent 5-20% or Rare <5% (Disease)
!'''Diagnostic, Prognostic, and Therapeutic Significance - D, P, T'''
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
!'''Established Clinical Significance Per Guidelines - Yes or No (Source)'''
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!'''Clinical Relevance Details/Other Notes'''
!Clinical Relevance Details/Other Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span>
Co-deletion of 1p and 18q
|<span class="blue-text">EXAMPLE:</span> See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).
|<span class="blue-text">EXAMPLE:</span> Common (Oligodendroglioma)
|<span class="blue-text">EXAMPLE:</span> D, P
|
|
|
|
|
|
|
|
|}
==Gene Mutations (SNV/INDEL)==
<br />
{| class="wikitable sortable"
|-
|-
|<span class="blue-text">EXAMPLE:</span>
!Gene!!Genetic Alteration!!Tumor Suppressor Gene, Oncogene, Other!!Prevalence -
Microsatellite instability - hypermutated
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''
|
|
|<span class="blue-text">EXAMPLE:</span> Common (Endometrial carcinoma)
|Oncogene
|<span class="blue-text">EXAMPLE:</span> P, T
|Common
|D
|
|G44 hotspot mutations<ref>{{Cite journal|last=Tan|first=Jing|last2=Ong|first2=Choon Kiat|last3=Lim|first3=Weng Khong|last4=Ng|first4=Cedric Chuan Young|last5=Thike|first5=Aye Aye|last6=Ng|first6=Ley Moy|last7=Rajasegaran|first7=Vikneswari|last8=Myint|first8=Swe Swe|last9=Nagarajan|first9=Sanjanaa|date=2015-11|title=Genomic landscapes of breast fibroepithelial tumors|url=https://pubmed.ncbi.nlm.nih.gov/26437033|journal=Nature Genetics|volume=47|issue=11|pages=1341–1345|doi=10.1038/ng.3409|issn=1546-1718|pmid=26437033}}</ref><ref>{{Cite journal|last=Sim|first=Yirong|last2=Ng|first2=Gwendolene Xin Pei|last3=Ng|first3=Cedric Chuan Young|last4=Rajasegaran|first4=Vikneswari|last5=Wong|first5=Suet Far|last6=Liu|first6=Wei|last7=Guan|first7=Peiyong|last8=Nagarajan|first8=Sanjanaa|last9=Ng|first9=Wai Yee|date=2019-10-23|title=A novel genomic panel as an adjunctive diagnostic tool for the characterization and profiling of breast Fibroepithelial lesions|url=https://pubmed.ncbi.nlm.nih.gov/31647027|journal=BMC medical genomics|volume=12|issue=1|pages=142|doi=10.1186/s12920-019-0588-2|issn=1755-8794|pmc=6813086|pmid=31647027}}</ref>
|-
|''TERT''
|
|Oncogene
|Recurrent
|
|
|Associated with juvenile fibroadenoma<ref name=":0">{{Cite journal|last=Jorns|first=Julie M.|last2=Farooq|first2=Ayesha|last3=Puzyrenko|first3=Andrii|last4=Jarzembowski|first4=Jason|last5=Thike|first5=Aye Aye|last6=Nasir|first6=Nur Diyana Md|last7=Ng|first7=Cedric Chuan Young|last8=Liu|first8=Wei|last9=Lee|first9=Jing Yi|date=2023-09|title=Giant juvenile fibroadenomas with and without prominent pseudoangiomatous stromal hyperplasia (PASH)-like change: clinicopathological and molecular characteristics|url=https://pubmed.ncbi.nlm.nih.gov/37140543|journal=Histopathology|volume=83|issue=3|pages=357–365|doi=10.1111/his.14935|issn=1365-2559|pmid=37140543}}</ref>
|-
|''RARA''
|
|Oncogene
|Recurrent
|
|
|
|
|Frequently co-mutated with MED12<ref>{{Cite journal|last=Tan|first=Jing|last2=Ong|first2=Choon Kiat|last3=Lim|first3=Weng Khong|last4=Ng|first4=Cedric Chuan Young|last5=Thike|first5=Aye Aye|last6=Ng|first6=Ley Moy|last7=Rajasegaran|first7=Vikneswari|last8=Myint|first8=Swe Swe|last9=Nagarajan|first9=Sanjanaa|date=2015-11|title=Genomic landscapes of breast fibroepithelial tumors|url=https://pubmed.ncbi.nlm.nih.gov/26437033|journal=Nature Genetics|volume=47|issue=11|pages=1341–1345|doi=10.1038/ng.3409|issn=1546-1718|pmid=26437033}}</ref>
|-
|-
|''EGFR''
|
|Oncogene
|Rare
|
|
|
|
|
|-
|''TP53''
|
|
|Tumor Suppressor Gene
|Common
|
|
|Associated with juvenile fibroadenoma and stromal PASH-like changes<ref name=":0" />
|-
|''PIK3CA''
|
|Oncogene
|Rare
|
|
|
|
|
|
|}
==Gene Mutations (SNV/INDEL)==
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: This table is not meant to be an exhaustive list; please include only genes/alterations that are recurrent or common as well either disease defining and/or clinically significant. If a gene has multiple mechanisms depending on the type or site of the alteration, add multiple entries in the table. For clinical significance, denote associations with FDA-approved therapy (not an extensive list of applicable drugs) and NCCN or other national guidelines if applicable; Can also refer to CGC workgroup tables as linked on the homepage if applicable as well as any high impact papers or reviews of gene mutations in this entity. Details on clinical significance such as prognosis and other important information such as concomitant and mutually exclusive mutations can be provided in the notes section. Please include references throughout the table. Do not delete the table.'') </span>
{| class="wikitable sortable"
|-
|-
!Gene!!'''Genetic Alteration'''!!'''Tumor Suppressor Gene, Oncogene, Other'''!!'''Prevalence -'''
|''KMT2D''
'''Common >20%, Recurrent 5-20% or Rare <5% (Disease)'''
|
!'''Diagnostic, Prognostic, and Therapeutic Significance - D, P, T  '''
|Tumor Suppressor Gene
!'''Established Clinical Significance Per Guidelines - Yes or No (Source)'''
|Recurrent
!'''Clinical Relevance Details/Other Notes'''
|
|
|
|-
|-
|<span class="blue-text">EXAMPLE:</span>''EGFR''
|''NF1''
 
|
<br />
|Tumor Suppressor Gene
|<span class="blue-text">EXAMPLE:</span> Exon 18-21 activating mutations
|Rare
|<span class="blue-text">EXAMPLE:</span> Oncogene
|
|<span class="blue-text">EXAMPLE:</span> Common (lung cancer)
|
|<span class="blue-text">EXAMPLE:</span> T
|
|<span class="blue-text">EXAMPLE:</span> Yes (NCCN)
|<span class="blue-text">EXAMPLE:</span> Exons 18, 19, and 21 mutations are targetable for therapy. Exon 20 T790M variants cause resistance to first generation TKI therapy and are targetable by second and third generation TKIs (add references).
|-
|-
|<span class="blue-text">EXAMPLE:</span> ''TP53''; Variable LOF mutations
|''SETD2''
<br />
|
|<span class="blue-text">EXAMPLE:</span> Variable LOF mutations
|Other
|<span class="blue-text">EXAMPLE:</span> Tumor Supressor Gene
|Common
|<span class="blue-text">EXAMPLE:</span> Common (breast cancer)
|D
|<span class="blue-text">EXAMPLE:</span> P
|
|
|<span class="blue-text">EXAMPLE:</span> >90% are somatic; rare germline alterations associated with Li-Fraumeni syndrome (add reference). Denotes a poor prognosis in breast cancer.
|Associated with juvenile fibroadenoma and PASH-like changes<ref name=":0" />
|-
|-
|<span class="blue-text">EXAMPLE:</span> ''BRAF''; Activating mutations
|''FLNA''
|<span class="blue-text">EXAMPLE:</span> Activating mutations
|<span class="blue-text">EXAMPLE:</span> Oncogene
|<span class="blue-text">EXAMPLE:</span> Common (melanoma)
|<span class="blue-text">EXAMPLE:</span> T
|
|
|Oncogene
|Common
|D
|
|
|Associated with juvenile fibroadenoma<ref name=":0" />
|-
|-
|
|
Line 242: Line 209:
|}Note: A more extensive list of mutations can be found in [https://www.cbioportal.org/ <u>cBioportal</u>], [https://cancer.sanger.ac.uk/cosmic <u>COSMIC</u>], and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.
|}Note: A more extensive list of mutations can be found in [https://www.cbioportal.org/ <u>cBioportal</u>], [https://cancer.sanger.ac.uk/cosmic <u>COSMIC</u>], and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.
==Epigenomic Alterations==
==Epigenomic Alterations==
Put your text here
<br />
==Genes and Main Pathways Involved==
==Genes and Main Pathways Involved==
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Please include references throughout the table. Do not delete the table.)''</span>
<br />
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
|-
|<span class="blue-text">EXAMPLE:</span> ''BRAF'' and ''MAP2K1''; Activating mutations
|<span class="blue-text">EXAMPLE:</span> MAPK signaling
|<span class="blue-text">EXAMPLE:</span> Increased cell growth and proliferation
|-
|<span class="blue-text">EXAMPLE:</span> ''CDKN2A''; Inactivating mutations
|<span class="blue-text">EXAMPLE:</span> Cell cycle regulation
|<span class="blue-text">EXAMPLE:</span> Unregulated cell division
|-
|<span class="blue-text">EXAMPLE:</span> ''KMT2C'' and ''ARID1A''; Inactivating mutations
|<span class="blue-text">EXAMPLE:</span> Histone modification, chromatin remodeling
|<span class="blue-text">EXAMPLE:</span> Abnormal gene expression program
|-
|-
|
|
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|}
|}
==Genetic Diagnostic Testing Methods==
==Genetic Diagnostic Testing Methods==
Put your text here <span style="color:#0070C0">(''Instructions: Include recommended testing type(s) to identify the clinically significant genetic alterations.'')</span>
Next generation sequencing, PCR based testing with Sanger sequencing.<br />
==Familial Forms==
==Familial Forms==
Put your text here <span style="color:#0070C0">(''Instructions: Include associated hereditary conditions/syndromes that cause this entity or are caused by this entity.'') </span>
Women with Carney complex due to an inherited pathogenic variant in PRKAR1A can develop myxoid fibroadenomas, which appear genetically distinct from conventional fibroadenomas.<ref>{{Cite journal|last=Carney|first=J. A.|last2=Toorkey|first2=B. C.|date=1991-08|title=Myxoid fibroadenoma and allied conditions (myxomatosis) of the breast. A heritable disorder with special associations including cardiac and cutaneous myxomas|url=https://pubmed.ncbi.nlm.nih.gov/2069209|journal=The American Journal of Surgical Pathology|volume=15|issue=8|pages=713–721|doi=10.1097/00000478-199108000-00001|issn=0147-5185|pmid=2069209}}</ref><ref>{{Cite journal|last=Lozada|first=John R.|last2=Burke|first2=Kathleen A.|last3=Maguire|first3=Aoife|last4=Pareja|first4=Fresia|last5=Lim|first5=Raymond S.|last6=Kim|first6=Jisun|last7=Gularte-Merida|first7=Rodrigo|last8=Murray|first8=Melissa P.|last9=Brogi|first9=Edi|date=2017-10|title=Myxoid fibroadenomas differ from conventional fibroadenomas: a hypothesis-generating study|url=https://pubmed.ncbi.nlm.nih.gov/28513873|journal=Histopathology|volume=71|issue=4|pages=626–634|doi=10.1111/his.13258|issn=1365-2559|pmc=5597459|pmid=28513873}}</ref> Beckwith-Wiedemann syndrome has been associated with the development of fibroadenomas in young patients.<ref>{{Cite journal|last=Poh|first=Melissa M.|last2=Ballard|first2=Tiffany N.|last3=Wendel|first3=J. Jason|date=2010-06|title=Beckwith-Wiedemann syndrome and juvenile fibroadenoma: a case report|url=https://pubmed.ncbi.nlm.nih.gov/20506580|journal=Annals of Plastic Surgery|volume=64|issue=6|pages=803–806|doi=10.1097/sap.0b013e3181b025f6|issn=1536-3708|pmid=20506580}}</ref><ref>{{Cite journal|last=Raine|first=P. A.|last2=Noblett|first2=H. R.|last3=Houghton-Allen|first3=B. W.|last4=Campbell|first4=P. E.|date=1979-04|title=Breast fibroadenoma and cardiac anomaly associated with EMG (Beckwith-Wiedemann) syndrome|url=https://pubmed.ncbi.nlm.nih.gov/430311|journal=The Journal of Pediatrics|volume=94|issue=4|pages=633–634|doi=10.1016/s0022-3476(79)80039-6|issn=0022-3476|pmid=430311}}</ref><br />
==Additional Information==
==Additional Information==
Put your text here
<br />
==Links==
==Links==
Put a link here or anywhere appropriate in this page <span style="color:#0070C0">(''Instructions: Highlight the text to which you want to add a link in this section or elsewhere, select the "Link" icon at the top of the wiki page, and search the name of the internal page to which you want to link this text, or enter an external internet address by including the "<nowiki>http://www</nowiki>." portion.'')</span>
https://www.pathologyoutlines.com/topic/breastfibroadenoma.html
==References==
==References==
(use the "Cite" icon at the top of the page) <span style="color:#0070C0">(''Instructions: Add each reference into the text above by clicking where you want to insert the reference, selecting the “Cite” icon at the top of the wiki page, and using the “Automatic” tab option to search by PMID to select the reference to insert. If a PMID is not available, such as for a book, please use the “Cite” icon, select “Manual” and then “Basic Form”, and include the entire reference. To insert the same reference again later in the page, select the “Cite” icon and “Re-use” to find the reference; DO NOT insert the same reference twice using the “Automatic” tab as it will be treated as two separate references. The reference list in this section will be automatically generated and sorted''</span><span style="color:#0070C0">''.''</span><span style="color:#0070C0">)</span>
<br /><references />
 
==Notes==
==Notes==
<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.  


Prior Author(s):  
Prior Author(s):
<nowiki>*</nowiki>''Citation of this Page'': “Fibroadenoma”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/BRST5:Fibroadenoma</nowiki>.
[[Category:BRST5]]
[[Category:DISEASE]]
[[Category:Diseases F]]

Latest revision as of 17:31, 11 December 2025


Breast Tumours (WHO Classification, 5th ed.)

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

Related Terminology

Acceptable N/A
Not Recommended Adenofibroma

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


Genes and Main Pathways Involved


Gene; Genetic Alteration Pathway Pathophysiologic Outcome

Genetic Diagnostic Testing Methods

Next generation sequencing, PCR based testing with Sanger sequencing.

Familial Forms

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


Links

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

References


  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)

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 12/11/2025, https://ccga.io/index.php/BRST5:Fibroadenoma.

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