BRST5:Fibroadenoma: Difference between revisions
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==Related Terminology== | ==Related Terminology== | ||
{| class="wikitable" | {| class="wikitable" | ||
|+ | |+ | ||
|Acceptable | |Acceptable | ||
| | |N/A | ||
|- | |- | ||
|Not Recommended | |Not Recommended | ||
| | |Adenofibroma | ||
|} | |} | ||
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{| class="wikitable sortable" | {| class="wikitable sortable" | ||
|- | |- | ||
!Chr #!! | !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 | ||
|- | |- | ||
| | | | ||
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!Chromosomal Pattern | !Chromosomal Pattern | ||
!Molecular Pathogenesis | !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 | ||
|- | |- | ||
| | | | ||
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{| class="wikitable sortable" | {| class="wikitable sortable" | ||
|- | |- | ||
!Gene!! | !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'' | |''MED12'' | ||
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|}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== | ||
<br /> | |||
==Genes and Main Pathways Involved== | ==Genes and Main Pathways Involved== | ||
<br /> | |||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
|- | |- | ||
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==Genetic Diagnostic Testing Methods== | ==Genetic Diagnostic Testing Methods== | ||
<br /> | Next generation sequencing, PCR based testing with Sanger sequencing.<br /> | ||
==Familial Forms== | ==Familial Forms== | ||
<br /> | 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== | ||
<br /> | <br /> | ||
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https://www.pathologyoutlines.com/topic/breastfibroadenoma.html | https://www.pathologyoutlines.com/topic/breastfibroadenoma.html | ||
==References== | ==References== | ||
<br /> | <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. | ||