Compendium of Cancer Genome Aberrations

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<span style="color:#0070C0">(''General Instructions – The main focus of these pages is the clinically significant genetic alterations in each disease type. Use [https://www.genenames.org/ <u>HUGO-approved gene names and symbols</u>] (italicized when appropriate), [https://varnomen.hgvs.org/ HGVS-based nomenclature for variants], 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). 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)*==
H. Evin Gulbahce, MD and Katherine Geiersbach, MD
==WHO Classification of Disease==


Put your text here<span style="color:#0070C0"> (''Name and affiliation; example:'' Jane Smith, PhD, Institute of Genomics) </span>
__TOC__
==Cancer Category / Type==
Put your text here
==Cancer Sub-Classification / Subtype==
Put your text here
==Definition / Description of Disease==
Put your text here <span style="color:#0070C0">(''Instructions: Brief description of approximately one paragraph - include disease context relative to other WHO classification categories referring to the specific WHO book pages, diagnostic criteria if applicable, and differential diagnosis if applicable'') </span>
==Synonyms / Terminology==
Put your text here <span style="color:#0070C0">(''Instructions: Include currently used terms and major historical ones, adding “(historical)” after the latter.'') </span>
==Epidemiology / Prevalence==
Put your text here
==Clinical Features==
Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table'') </span>
{| class="wikitable"
{| class="wikitable"
|'''Signs and Symptoms'''
!Structure
|EXAMPLE Asymptomatic (incidental finding on complete blood counts)
!Disease
 
EXAMPLE B-symptoms (weight loss, fever, night sweats)
 
EXAMPLE Fatigue
 
EXAMPLE Lymphadenopathy (uncommon)
|-
|'''Laboratory Findings'''
|EXAMPLE Cytopenias
 
EXAMPLE Lymphocytosis (low level)
|}
 
==Sites of Involvement==
 
Put your text here <span style="color:#0070C0">(''Instruction: Indicate physical sites; Example: nodal, extranodal, bone marrow'') </span>
 
==Morphologic Features==
 
Put your text here
 
==Immunophenotype==
 
Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table'') </span>
 
{| class="wikitable sortable"
|-
|-
!Finding!!Marker
|Book
|Breast Tumours (5th ed.)
|-
|-
|Positive (universal)||EXAMPLE CD1
|Category
|Fibroepithelial tumours and hamartomas of the breast
|-
|-
|Positive (subset)||EXAMPLE CD2
|Family
|Fibroepithelial tumours and hamartomas of the breast: Introduction
|-
|-
|Negative (universal)||EXAMPLE CD3
|Type
|Fibroadenoma
|-
|-
|Negative (subset)||EXAMPLE CD4
|Subtype(s)
|N/A
|}
|}


==Chromosomal Rearrangements (Gene Fusions)==
==Related Terminology==


Put your text here and fill in the table
{| class="wikitable"
|+
|Acceptable
|N/A
|-
|Not Recommended
|Adenofibroma
|}


==Gene Rearrangements==
<br />
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Chromosomal Rearrangement!!Genes in Fusion (5’ or 3’ Segments)!!Pathogenic Derivative!!Prevalence
!Driver Gene!!Fusion(s) and Common Partner Genes!!Molecular Pathogenesis!!Typical Chromosomal Alteration(s)
!Diagnostic Significance (Yes, No or Unknown)
!Prevalence -Common >20%, Recurrent 5-20% or Rare <5% (Disease)
!Prognostic Significance (Yes, No or Unknown)
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
!Therapeutic Significance (Yes, No or Unknown)
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!Notes
!Clinical Relevance Details/Other Notes
|-
|-
|EXAMPLE t(9;22)(q34;q11.2)||EXAMPLE 3'ABL1 / 5'BCR||EXAMPLE der(22)||EXAMPLE 20% (COSMIC)
|
EXAMPLE 30% (add reference)
|
|Yes
|
|No
|
|Yes
|
|EXAMPLE
|
 
|
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).
|
|}
|-
|
==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 fusions. Can include references in the table. Can refer to CGC workgroup tables as linked on the homepage if applicable.'') </span>
|
 
|
|
|
|
|-
|
|
|
|
|
|
|
|
|}
==Individual Region Genomic Gain/Loss/LOH==
<br />
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Chr #!!Gain / Loss / Amp / LOH!!Minimal Region Genomic Coordinates [Genome Build]!!Minimal Region Cytoband
!Chr #!!Gain, Loss, Amp, LOH!!Minimal Region Cytoband and/or Genomic Coordinates [Genome Build; Size]!!Relevant Gene(s)
!Diagnostic Significance (Yes, No or Unknown)
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
!Prognostic Significance (Yes, No or Unknown)
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!Therapeutic Significance (Yes, No or Unknown)
!Clinical Relevance Details/Other Notes
!Notes
|-
|-
|EXAMPLE
|
 
|
7
|
|EXAMPLE Loss
|
|EXAMPLE
|
 
|
chr7:1- 159,335,973 [hg38]
|
|EXAMPLE
 
chr7
|Yes
|Yes
|No
|EXAMPLE
 
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 reference).
|-
|EXAMPLE
 
8
|EXAMPLE Gain
|EXAMPLE
 
chr8:1-145,138,636 [hg38]
|EXAMPLE
 
chr8
|No
|No
|No
|EXAMPLE
 
Common recurrent secondary finding for t(8;21) (add reference).
|}
|}
==Characteristic Chromosomal Patterns==
==Characteristic Chromosomal or Other Global Mutational Patterns==
 
<br />
Put your text here <span style="color:#0070C0">(''EXAMPLE PATTERNS: 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'')</span>
 
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Chromosomal Pattern
!Chromosomal Pattern
!Diagnostic Significance (Yes, No or Unknown)
!Molecular Pathogenesis
!Prognostic Significance (Yes, No or Unknown)
!Prevalence -
!Therapeutic Significance (Yes, No or Unknown)
Common >20%, Recurrent 5-20% or Rare <5% (Disease)
!Notes
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!Clinical Relevance Details/Other Notes
|-
|-
|EXAMPLE
|
 
|
Co-deletion of 1p and 18q
|
|Yes
|
|No
|
|No
|
|EXAMPLE:
 
See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).
|}
|}
==Gene Mutations (SNV / INDEL)==
==Gene Mutations (SNV/INDEL)==
 
<br />
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 and common as well either disease defining and/or clinically significant. Can include references 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.'') </span>
 
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Gene; Genetic Alteration!!'''Presumed Mechanism (Tumor Suppressor Gene [TSG] / Oncogene / Other)'''!!'''Prevalence (COSMIC /  TCGA / Other)'''!!'''Concomitant Mutations'''!!'''Mutually Exclusive Mutations'''
!Gene!!Genetic Alteration!!Tumor Suppressor Gene, Oncogene, Other!!Prevalence -
!'''Diagnostic Significance (Yes, No or Unknown)'''
Common >20%, Recurrent 5-20% or Rare <5% (Disease)
!Prognostic Significance (Yes, No or Unknown)
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T  
!Therapeutic Significance (Yes, No or Unknown)
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!Notes
!Clinical Relevance Details/Other Notes
|-
|''MED12''
|
|Oncogene
|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
|
|
|
|-
|-
|EXAMPLE: TP53; Variable LOF mutations
|''TP53''
 
|
EXAMPLE:
|Tumor Suppressor Gene
 
|Common
EGFR; Exon 20 mutations
|
 
|
EXAMPLE: BRAF; Activating mutations
|Associated with juvenile fibroadenoma and stromal PASH-like changes<ref name=":0" />
|EXAMPLE: TSG
|-
|EXAMPLE: 20% (COSMIC)
|''PIK3CA''
 
|
EXAMPLE: 30% (add Reference)
|Oncogene
|EXAMPLE: IDH1 R123H
|Rare
|EXAMPLE: EGFR amplification
|
|
|
|-
|''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" />
|-
|
|
|
|
|
|
|
|
|
|
|EXAMPLE:  Excludes hairy cell leukemia (HCL) (add reference).
|}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 />
<br />
|}
Note: A more extensive list of mutations can be found in cBioportal (https://www.cbioportal.org/), COSMIC (https://cancer.sanger.ac.uk/cosmic), ICGC (https://dcc.icgc.org/) and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.
==Epigenomic Alterations==
Put your text here
==Genes and Main Pathways Involved==
==Genes and Main Pathways Involved==
 
<br />
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Can include references in the table.'')</span>
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
|-
|-
|EXAMPLE: BRAF and MAP2K1; Activating mutations
|
|EXAMPLE: MAPK signaling
|
|EXAMPLE: Increased cell growth and proliferation
|
|-
|EXAMPLE: CDKN2A; Inactivating mutations
|EXAMPLE: Cell cycle regulation
|EXAMPLE: Unregulated cell division
|-
|EXAMPLE:  KMT2C and ARID1A; Inactivating mutations
|EXAMPLE:  Histone modification, chromatin remodeling
|EXAMPLE:  Abnormal gene expression program
|}
|}
==Genetic Diagnostic Testing Methods==
==Genetic Diagnostic Testing Methods==
 
Next generation sequencing, PCR based testing with Sanger sequencing.<br />
Put your text here
 
==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 />
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>
 
==Additional Information==
==Additional Information==
 
<br />
Put your text here
 
==Links==
==Links==
 
https://www.pathologyoutlines.com/topic/breastfibroadenoma.html
Put your text placeholder here (or anywhere appropriate on the page) and use the "Link" icon at the top of the page <span style="color:#0070C0">(''Instructions: Once you have a text placeholder entered to which you want to add a link, highlight that text, select the "Link" icon at the top of the page, and search the name of the internal page to which you want to link this text, or enter an external internet address including the "<nowiki>http://www</nowiki>." portion.'')</span>
 
==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 on where you want to insert the reference, selecting the “Cite” icon at the top of the page, and using the “Automatic” tab option to search such as by PMID to select the reference to insert. The reference list in this section will be automatically generated and sorted.''</span> <span style="color:#0070C0">''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''</span><span style="color:#0070C0">''.''</span><span style="color:#0070C0">) </span> <references />
<br /><references />


'''EXAMPLE Book'''
==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.


#Arber DA, et al., (2017). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors. IARC Press: Lyon, France, p129-171.
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>.
==Notes==
[[Category:BRST5]]
<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.
[[Category:DISEASE]]
[[Category:Diseases F]]
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