BRST5:Fibroadenoma: Difference between revisions

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[[BRST5:Table_of_Contents|Breast Tumours (WHO Classification, 5th ed.)]]
==Primary Author(s)*==
==Primary Author(s)*==
H. Evin Gulbahce, MD and Katherine Geiersbach, MD
==WHO Classification of Disease==


{| class="wikitable"
__TOC__
!Structure
 
!Disease
==Cancer Category/Type==
 
Breast
 
==Cancer Sub-Classification / Subtype==
 
Put your text here
 
==Definition / Description of Disease==
 
Put your text here
 
==Synonyms / Terminology==
 
Put your text here
 
==Epidemiology / Prevalence==
 
Put your text here
 
==Clinical Features==
 
Put your text here
 
==Sites of Involvement==
 
Put your text here
 
==Morphologic Features==
 
Put your text here
 
==Immunophenotype==
 
Put your text here and/or fill in the table
 
{| class="wikitable sortable"
|-
|-
|Book
! Finding  !! Marker
|Breast Tumours (5th ed.)
|-
|-
|Category
|Positive (universal) || EXAMPLE CD1
|Fibroepithelial tumours and hamartomas of the breast
|-
|-
|Family
|Positive (subset) || EXAMPLE CD2
|Fibroepithelial tumours and hamartomas of the breast: Introduction
|-
|-
|Type
|Negative (universal) || EXAMPLE CD3
|Fibroadenoma
|-
|-
|Subtype(s)
|Negative (subset) || EXAMPLE CD4
|N/A
|}
|}


==WHO Essential and Desirable Genetic Diagnostic Criteria==
==Chromosomal Rearrangements (Gene Fusions)==
{| class="wikitable"
 
|+
Put your text here and/or fill in the table
|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==
{| class="wikitable"
|+
|Acceptable
|
|-
|Not Recommended
|
|}


==Gene Rearrangements==
<br />
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Driver Gene!!Fusion(s) and Common Partner Genes!!Molecular Pathogenesis!!Typical Chromosomal Alteration(s)
! Chromosomal Rearrangement !! Genes in Fusion (5’ or 3’ Segments) !! Pathogenic Derivative !! Prevalence
!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
|-
|-
|
|EXAMPLE t(9;22)(q34;q11.2) || EXAMPLE 3'ABL1 / 5'BCR || EXAMPLE der(22) || EXAMPLE 5%
|
|
|
|
|
|
|
|-
|-
|
|EXAMPLE t(8;21)(q22;q22) || EXAMPLE 5'RUNX1 / 3'RUNXT1 || EXAMPLE der(8) || EXAMPLE 5%
|
|}
|
|
==Characteristic Chromosomal Aberrations / Patterns==
|
 
|
Put your text here
|
 
|
==Genomic Gain/Loss/LOH==
|-
 
|
Put your text here and/or fill in the table
|
 
|
|
|
|
|
|
|}
==Individual Region Genomic Gain/Loss/LOH==
<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)'''
! Chromosome Number !! Gain/Loss/Amp/LOH !! Region
!'''Diagnostic, Prognostic, and Therapeutic Significance - D, P, T'''
!'''Established Clinical Significance Per Guidelines - Yes or No (Source)'''
!'''Clinical Relevance Details/Other Notes'''
|-
|-
|
|EXAMPLE 8 || EXAMPLE Gain || EXAMPLE chr8:0-1000000
|
|
|
|
|
|
|}
==Characteristic Chromosomal or Other Global Mutational Patterns==
<br />
{| class="wikitable sortable"
|-
|-
!Chromosomal Pattern
|EXAMPLE 7 || EXAMPLE Loss || EXAMPLE chr7:0-1000000
!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 Mutations (SNV/INDEL)==
<br />
 
Put your text here and/or fill in the tables
 
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Gene!!'''Genetic Alteration'''!!'''Tumor Suppressor Gene, Oncogene, Other'''!!'''Prevalence -'''
! Gene !! Mutation !! Oncogene/Tumor Suppressor/Other !! Presumed Mechanism (LOF/GOF/Other; Driver/Passenger) !! Prevalence (COSMIC/TCGA/Other)
'''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''
| EXAMPLE TP53 || EXAMPLE R273H || EXAMPLE Tumor Suppressor || EXAMPLE LOF || EXAMPLE 20%
|
|}
|Oncogene
|Common
===Other Mutations===
|D
{| class="wikitable sortable"
|
|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''
! Type !! Gene/Region/Other
|
|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''
| Concomitant Mutations || EXAMPLE IDH1 R123H
|
|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''
| Secondary Mutations || EXAMPLE Trisomy 7
|
|Oncogene
|Rare
|
|
|
|-
|-
|''TP53''
|Mutually Exclusive || EXAMPLE EGFR Amplification
|
|}
|Tumor Suppressor Gene
 
|Common
==Epigenomics (Methylation)==
|
 
|
Put your text here
|Associated with juvenile fibroadenoma and stromal PASH-like changes<ref name=":0" />
 
|-
|''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<ref name=":0" />
|-
|''FLNA''
|
|Oncogene
|Common
|D
|
|Associated with juvenile fibroadenoma<ref name=":0" />
|-
|
|
|
|
|
|
|
|}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==
<br />
==Genes and Main Pathways Involved==
==Genes and Main Pathways Involved==
<br />
 
{| class="wikitable sortable"
Put your text here
|-
 
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
==Diagnostic Testing Methods==
|-
 
|
Put your text here
|
 
|
==Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications)==
|}
 
==Genetic Diagnostic Testing Methods==
Put your text here
Next generation sequencing, PCR based testing with Sanger sequencing.<br />
 
==Familial Forms==
==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.<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==
Put your text here
<br />
 
==Other Information==
 
Put your text here
 
==Links==
==Links==
https://www.pathologyoutlines.com/topic/breastfibroadenoma.html
 
Put your links here
 
==References==
==References==
<br />
==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.


Prior Author(s):
=== EXAMPLE Book ===
<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>.
#Arber DA, et al., (2008). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, 4thedition.Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW, Editors. IARC Press: Lyon, France, p117-118.
[[Category:BRST5]]
 
[[Category:DISEASE]]
=== EXAMPLE Journal Article ===
[[Category:Diseases F]]
#Li Y, et al., (2001). Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia. Nat Genet 28:220-221, PMID 11431691.
<references />
 
== 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 CCGA coordinators (contact information provided on the homepage). Additional global feedback or concerns are also welcome.

Revision as of 12:00, 26 July 2017

Primary Author(s)*

Cancer Category/Type

Breast

Cancer Sub-Classification / Subtype

Put your text here

Definition / Description of Disease

Put your text here

Synonyms / Terminology

Put your text here

Epidemiology / Prevalence

Put your text here

Clinical Features

Put your text here

Sites of Involvement

Put your text here

Morphologic Features

Put your text here

Immunophenotype

Put your text here and/or fill in the table

Finding Marker
Positive (universal) EXAMPLE CD1
Positive (subset) EXAMPLE CD2
Negative (universal) EXAMPLE CD3
Negative (subset) EXAMPLE CD4

Chromosomal Rearrangements (Gene Fusions)

Put your text here and/or fill in the table

Chromosomal Rearrangement Genes in Fusion (5’ or 3’ Segments) Pathogenic Derivative Prevalence
EXAMPLE t(9;22)(q34;q11.2) EXAMPLE 3'ABL1 / 5'BCR EXAMPLE der(22) EXAMPLE 5%
EXAMPLE t(8;21)(q22;q22) EXAMPLE 5'RUNX1 / 3'RUNXT1 EXAMPLE der(8) EXAMPLE 5%

Characteristic Chromosomal Aberrations / Patterns

Put your text here

Genomic Gain/Loss/LOH

Put your text here and/or fill in the table

Chromosome Number Gain/Loss/Amp/LOH Region
EXAMPLE 8 EXAMPLE Gain EXAMPLE chr8:0-1000000
EXAMPLE 7 EXAMPLE Loss EXAMPLE chr7:0-1000000

Gene Mutations (SNV/INDEL)

Put your text here and/or fill in the tables

Gene Mutation Oncogene/Tumor Suppressor/Other Presumed Mechanism (LOF/GOF/Other; Driver/Passenger) Prevalence (COSMIC/TCGA/Other)
EXAMPLE TP53 EXAMPLE R273H EXAMPLE Tumor Suppressor EXAMPLE LOF EXAMPLE 20%

Other Mutations

Type Gene/Region/Other
Concomitant Mutations EXAMPLE IDH1 R123H
Secondary Mutations EXAMPLE Trisomy 7
Mutually Exclusive EXAMPLE EGFR Amplification

Epigenomics (Methylation)

Put your text here

Genes and Main Pathways Involved

Put your text here

Diagnostic Testing Methods

Put your text here

Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications)

Put your text here

Familial Forms

Put your text here

Other Information

Put your text here

Links

Put your links here

References

EXAMPLE Book

  1. Arber DA, et al., (2008). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, 4thedition.Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW, Editors. IARC Press: Lyon, France, p117-118.

EXAMPLE Journal Article

  1. Li Y, et al., (2001). Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia. Nat Genet 28:220-221, PMID 11431691.

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 CCGA coordinators (contact information provided on the homepage). Additional global feedback or concerns are also welcome.

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