BRST5:Phyllodes tumour: Difference between revisions
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{{DISPLAYTITLE:Phyllodes tumour}} | |||
[[BRST5:Table_of_Contents|Breast Tumours (WHO Classification, 5th ed.)]] | |||
{{Under Construction}} | |||
<br /> | <br /> | ||
==Primary Author(s)*== | ==Primary Author(s)*== | ||
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==WHO Classification of Disease== | ==WHO Classification of Disease== | ||
{| 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 | ||
| | |Phyllodes tumour | ||
|- | |- | ||
|Subtype(s) | |Subtype(s) | ||
| | |N/A | ||
|} | |} | ||
==Related Terminology== | ==Related Terminology== | ||
{| class="wikitable" | {| class="wikitable" | ||
|+ | |+ | ||
|Acceptable | |Acceptable | ||
| | |N/A | ||
|- | |- | ||
|Not Recommended | |Not Recommended | ||
| | |Cystosarcoma phyllodes | ||
|} | |} | ||
==Gene Rearrangements== | ==Gene Rearrangements== | ||
<br /> | <br /> | ||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
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| | | | ||
|} | |} | ||
==Individual Region Genomic Gain/Loss/LOH== | ==Individual Region Genomic Gain/Loss/LOH== | ||
<br /> | <br /> | ||
{| 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 | ||
|- | |- | ||
|1 | |1 | ||
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| | | | ||
|} | |} | ||
==Characteristic Chromosomal or Other Global Mutational Patterns== | ==Characteristic Chromosomal or Other Global Mutational Patterns== | ||
<br /> | <br /> | ||
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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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| | | | ||
|} | |} | ||
==Gene Mutations (SNV/INDEL)== | ==Gene Mutations (SNV/INDEL)== | ||
<br /> | |||
{| 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 | ||
|- | |- | ||
|''FLNA'' | |''FLNA'' | ||
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|D | |D | ||
| | | | ||
|No significant difference between benign, borderline, and malignant tumors. Frequently co-mutated with ''RARA'', ''TERT'' promoter, ''SETD2'', ''EGFR''.<ref>{{Cite journal|last=Cani|first=Andi K.|last2=Hovelson|first2=Daniel H.|last3=McDaniel|first3=Andrew S.|last4=Sadis|first4=Seth|last5=Haller|first5=Michaela J.|last6=Yadati|first6=Venkata|last7=Amin|first7=Anmol M.|last8=Bratley|first8=Jarred|last9=Bandla|first9=Santhoshi|date=2015-04|title=Next-Gen Sequencing Exposes Frequent MED12 Mutations and Actionable Therapeutic Targets in Phyllodes Tumors|url=https://pubmed.ncbi.nlm.nih.gov/25593300|journal=Molecular cancer research: MCR|volume=13|issue=4|pages=613–619|doi=10.1158/1541-7786.MCR-14-0578|issn=1557-3125|pmc=4936398|pmid=25593300}}</ref><ref name=":5" /><ref name=":4" /> | |No significant difference between benign, borderline, and malignant tumors. Frequently co-mutated with ''RARA'', ''TERT'' promoter, ''SETD2'', ''EGFR''.<ref>{{Cite journal|last=Cani|first=Andi K.|last2=Hovelson|first2=Daniel H.|last3=McDaniel|first3=Andrew S.|last4=Sadis|first4=Seth|last5=Haller|first5=Michaela J.|last6=Yadati|first6=Venkata|last7=Amin|first7=Anmol M.|last8=Bratley|first8=Jarred|last9=Bandla|first9=Santhoshi|date=2015-04|title=Next-Gen Sequencing Exposes Frequent MED12 Mutations and Actionable Therapeutic Targets in Phyllodes Tumors|url=https://pubmed.ncbi.nlm.nih.gov/25593300|journal=Molecular cancer research: MCR|volume=13|issue=4|pages=613–619|doi=10.1158/1541-7786.MCR-14-0578|issn=1557-3125|pmc=4936398|pmid=25593300}}</ref><ref name=":5" /><ref name=":4" /> ''MED12'' is also frequently mutated in fibroadenoma, a related fibroepthelial tumor.<ref name=":5" /> | ||
|- | |- | ||
|''RARA'' | |''RARA'' | ||
| Line 214: | Line 215: | ||
| | | | ||
|No significant difference between benign, borderline, and malignant tumors. Frequently co-mutated with ''MED12''.<ref name=":4" /><ref name=":6" /> | |No significant difference between benign, borderline, and malignant tumors. Frequently co-mutated with ''MED12''.<ref name=":4" /><ref name=":6" /> | ||
|- | |||
|''CDKN2A'' | |||
|Inactivating mutations | |||
|Tumor suppressor gene | |||
|Recurrent | |||
| | |||
| | |||
|More common in malignant tumors.<ref name=":4" /> | |||
|- | |- | ||
|''EGFR'' | |''EGFR'' | ||
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| | | | ||
|More common in malignant tumors.<ref name=":4" /> Germline mutations have been associated with phyllodes tumors.<ref>{{Cite journal|last=Rosenberger|first=Laura H.|last2=Thomas|first2=Samantha M.|last3=Nimbkar|first3=Suniti N.|last4=Hieken|first4=Tina J.|last5=Ludwig|first5=Kandice K.|last6=Jacobs|first6=Lisa K.|last7=Miller|first7=Megan E.|last8=Gallagher|first8=Kristalyn K.|last9=Wong|first9=Jasmine|date=2020-10|title=Germline Genetic Mutations in a Multi-center Contemporary Cohort of 550 Phyllodes Tumors: An Opportunity for Expanded Multi-gene Panel Testing|url=https://pubmed.ncbi.nlm.nih.gov/32504368|journal=Annals of Surgical Oncology|volume=27|issue=10|pages=3633–3640|doi=10.1245/s10434-020-08480-z|issn=1534-4681|pmc=9945652|pmid=32504368}}</ref> | |More common in malignant tumors.<ref name=":4" /> Germline mutations have been associated with phyllodes tumors.<ref>{{Cite journal|last=Rosenberger|first=Laura H.|last2=Thomas|first2=Samantha M.|last3=Nimbkar|first3=Suniti N.|last4=Hieken|first4=Tina J.|last5=Ludwig|first5=Kandice K.|last6=Jacobs|first6=Lisa K.|last7=Miller|first7=Megan E.|last8=Gallagher|first8=Kristalyn K.|last9=Wong|first9=Jasmine|date=2020-10|title=Germline Genetic Mutations in a Multi-center Contemporary Cohort of 550 Phyllodes Tumors: An Opportunity for Expanded Multi-gene Panel Testing|url=https://pubmed.ncbi.nlm.nih.gov/32504368|journal=Annals of Surgical Oncology|volume=27|issue=10|pages=3633–3640|doi=10.1245/s10434-020-08480-z|issn=1534-4681|pmc=9945652|pmid=32504368}}</ref> | ||
|}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== | ||
==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> | 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> | ||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
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https://www.pathologyoutlines.com/topic/breastphyllodesgeneral.html | https://www.pathologyoutlines.com/topic/breastphyllodesgeneral.html | ||
==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): | ||
<br /> | <br /> | ||
==References== | ==References== | ||
<br /><references /> | |||
<nowiki>*</nowiki>''Citation of this Page'': “Phyllodes tumour”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/BRST5:Phyllodes tumour</nowiki>. | |||
[[Category:BRST5]] | |||
[[Category:DISEASE]] | |||
[[Category:Diseases P]] | |||