Compendium of Cancer Genome Aberrations

BRST5:Phyllodes tumour: Difference between revisions

[checked revision][checked revision]
← Older editNewer edit →
VisualWikitext
No edit summary
No edit summary
Line 1: Line 1:
<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>
<span style="color:#0070C0">EGFR(''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>


==Primary Author(s)*==
==Primary Author(s)*==


Put your text here<span style="color:#0070C0"> (''Name and affiliation; example:'' Jane Smith, PhD, Institute of Genomics) </span>
H. Evin Gulbahce, MD, MSCI, University of Utah, UT, USA
 
Emilie Lalonde, PhD, London Health Sciences Center and Western University, London, Ontario, Canada
 
Patricija Zot, MD, Mayo Clinic, MN, USA


__TOC__
__TOC__
Line 9: Line 13:
==Cancer Category / Type==
==Cancer Category / Type==


Put your text here
Breast cancer / Fibroepithelial Tumors of the Breast


==Cancer Sub-Classification / Subtype==
==Cancer Sub-Classification / Subtype==


Put your text here
Phyllodes Tumor 


==Definition / Description of Disease==
==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>
Phyllodes Tumor (PT) is a rare fibroepithelial neoplasm. Phyllodes tumors are subclassified as benign, borderline, or malignant based on a combination of several histologic features including stromal cellularity, atypia, mitotic activity, tumor border, and stromal overgrowth. The majority (60-75%) are benign, 15-25% are borderline, 8-20% are malignant.


==Synonyms / Terminology==
==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>
Cystosarcoma phyllodes ''(Historical)''


==Epidemiology / Prevalence==
==Epidemiology / Prevalence==


Put your text here
Rare, less than 1% of all breast tumors and 2.5% of all fibroepithelial neoplasms. The incidence is higher, ~7% of breast tumors, among Asian women. Phyllodes tumor is more common in older women (in their 50s), in contrast to fibroadenomas which are more common in younger women (in their 20s).


==Clinical Features==
==Clinical Features==


Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table'') </span>
PT usually present clinically as unilateral, well circumscribed mass. Lymph node metastases are infrequent.
{| class="wikitable"
{| class="wikitable"
|'''Signs and Symptoms'''
|'''Signs and Symptoms'''
|EXAMPLE Asymptomatic (incidental finding on complete blood counts)
|
 
EXAMPLE B-symptoms (weight loss, fever, night sweats)
 
EXAMPLE Fatigue
 
EXAMPLE Lymphadenopathy (uncommon)
|-
|-
|'''Laboratory Findings'''
|'''Laboratory Findings'''
|EXAMPLE Cytopenias
|
 
EXAMPLE Lymphocytosis (low level)
|}
|}


==Sites of Involvement==
==Sites of Involvement==


Put your text here <span style="color:#0070C0">(''Instruction: Indicate physical sites; Example: nodal, extranodal, bone marrow'') </span>
There is no specific predilection for location in the breast.


==Morphologic Features==
==Morphologic Features==


Put your text here
''Malignant'' phyllodes tumor is diagnosed when all of the following morphologic features are present <ref>{{Cite journal|last=Zhang|first=Yanhong|last2=Kleer|first2=Celina G.|date=2016-07|title=Phyllodes Tumor of the Breast: Histopathologic Features, Differential Diagnosis, and Molecular/Genetic Updates|url=https://pubmed.ncbi.nlm.nih.gov/27362571|journal=Archives of Pathology & Laboratory Medicine|volume=140|issue=7|pages=665–671|doi=10.5858/arpa.2016-0042-RA|issn=1543-2165|pmid=27362571}}</ref>:
 
·       Marked stromal nuclear pleomorphism
 
·       Stromal overgrowth (absence of epithelial elements in one low-power microscopic field)
 
·       Increased mitoses (>=10 mitoses/10 high power fields (hpf))
 
·       Increased stromal cellularity
 
·       Permeative tumor border
 
Or, when malignant heterologous elements are present (with the exception of well-differentiated liposarcoma).
 
''Borderline'' phyllodes tumor is diagnosed when one or more of the above adverse histologic features are present but histologic criteria fall short of malignant PT.
 
''Benign'' phyllodes tumor has well defined borders, shows mild stromal cellularity, does not show atypia, and has a mitotic count <5/10 hpf


==Immunophenotype==
==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"
{| class="wikitable sortable"
Line 62: Line 72:
!Finding!!Marker
!Finding!!Marker
|-
|-
|Positive (universal)||EXAMPLE CD1
|Positive (universal)||CD34 (in benign PT)
|-
|-
|Positive (subset)||EXAMPLE CD2
|Positive (subset)||EGFR (97%) of Malignant PT <ref>{{Cite journal|last=Gatalica|first=Zoran|last2=Vranic|first2=Semir|last3=Ghazalpour|first3=Anatole|last4=Xiu|first4=Joanne|last5=Ocal|first5=Idris Tolgay|last6=McGill|first6=John|last7=Bender|first7=Ryan P.|last8=Discianno|first8=Erin|last9=Schlum|first9=Aaron|date=2016-01-12|title=Multiplatform molecular profiling identifies potentially targetable biomarkers in malignant phyllodes tumors of the breast|url=https://pubmed.ncbi.nlm.nih.gov/26625196|journal=Oncotarget|volume=7|issue=2|pages=1707–1716|doi=10.18632/oncotarget.6421|issn=1949-2553|pmc=4811491|pmid=26625196}}</ref>, CD34 (majority of borderline PT, subset of malignant PT), beta-catenin (94%) of benign lesions
|-
|-
|Negative (universal)||EXAMPLE CD3
|Negative (universal)||p63 and p40 (in benign and borderline PT)
|-
|-
|Negative (subset)||EXAMPLE CD4
|Negative (subset)||EXAMPLE CD4
Line 72: Line 82:


==Chromosomal Rearrangements (Gene Fusions)==
==Chromosomal Rearrangements (Gene Fusions)==
Put your text here and fill in the table


{| class="wikitable sortable"
{| class="wikitable sortable"
Line 83: Line 91:
!Notes
!Notes
|-
|-
|EXAMPLE t(9;22)(q34;q11.2)||EXAMPLE 3'ABL1 / 5'BCR||EXAMPLE der(22)||EXAMPLE 20% (COSMIC)
|NA|| || ||
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==
==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>


{| class="wikitable sortable"
{| class="wikitable sortable"
Line 105: Line 108:
!Notes
!Notes
|-
|-
|EXAMPLE
|''EGFR''
 
|Amplification
7
|
|EXAMPLE Loss
|7p11.2
|EXAMPLE
|No
 
|No
chr7:1- 159,335,973 [hg38]
|No
|EXAMPLE
|Borderline and malignant tumors <ref name=":0">{{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=Gatalica|first=Zoran|last2=Vranic|first2=Semir|last3=Ghazalpour|first3=Anatole|last4=Xiu|first4=Joanne|last5=Ocal|first5=Idris Tolgay|last6=McGill|first6=John|last7=Bender|first7=Ryan P.|last8=Discianno|first8=Erin|last9=Schlum|first9=Aaron|date=2016-01-12|title=Multiplatform molecular profiling identifies potentially targetable biomarkers in malignant phyllodes tumors of the breast|url=https://pubmed.ncbi.nlm.nih.gov/26625196|journal=Oncotarget|volume=7|issue=2|pages=1707–1716|doi=10.18632/oncotarget.6421|issn=1949-2553|pmc=4811491|pmid=26625196}}</ref>
 
|-
chr7
|''RB1''
|Yes
|Deletion
|
|13q14.2
|No
|No
|No
|Mostly borderline or malignant tumors <ref name=":1">{{Cite journal|last=Kim|first=Ji-Yeon|last2=Yu|first2=Jong Han|last3=Nam|first3=Seok Jin|last4=Kim|first4=Seok Won|last5=Lee|first5=Se Kyung|last6=Park|first6=Woong-Yang|last7=Noh|first7=Dong-Young|last8=Nam|first8=Do-Hyun|last9=Park|first9=Yeon Hee|date=2018-02|title=Genetic and Clinical Characteristics of Phyllodes Tumors of the Breast|url=https://pubmed.ncbi.nlm.nih.gov/29145046|journal=Translational Oncology|volume=11|issue=1|pages=18–23|doi=10.1016/j.tranon.2017.10.002|issn=1936-5233|pmc=5684533|pmid=29145046}}</ref><ref name=":0" /><ref name=":2">{{Cite journal|last=Tsang|first=Julia Y.|last2=Shao|first2=Yan|last3=Poon|first3=Ivan K.|last4=Ni|first4=Yun-Bi|last5=Kwan|first5=Johnny S.|last6=Chow|first6=Chit|last7=Shea|first7=Ka-Ho|last8=Tse|first8=Gary M.|date=2022-10|title=Analysis of recurrent molecular alterations in phyllodes tumour of breast: insights into prognosis and pathogenesis|url=https://pubmed.ncbi.nlm.nih.gov/35691725|journal=Pathology|volume=54|issue=6|pages=678–685|doi=10.1016/j.pathol.2022.03.008|issn=1465-3931|pmid=35691725}}</ref>
|-
|''PTEN''
|Deletion
|
|10q23.31
|No
|Yes
|Yes
|No
|No
|EXAMPLE
|Malignant tumors; less common <ref name=":1" /><ref name=":2" />
 
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
|''CDKN2A''/ ''CDKN2B''
 
|Deletion
8
|
|EXAMPLE Gain
|9p21.3
|EXAMPLE
 
chr8:1-145,138,636 [hg38]
|EXAMPLE
 
chr8
|No
|No
|No
|Yes
|No
|No
|EXAMPLE
|Borderline and malignant tumors; associated with recurrent disease <ref name=":2" />
 
Common recurrent secondary finding for t(8;21) (add reference).
|}
|}
==Characteristic Chromosomal Patterns==
==Characteristic Chromosomal Patterns==
Line 173: Line 178:
!Notes
!Notes
|-
|-
|EXAMPLE: TP53; Variable LOF mutations
|MED12
 
|Gain of function; G44 residue is a hotspot
EXAMPLE:
|73%, 67% (PMID:25593300, 26437033)
 
|Often co-occurring RARA, TERT promoter, SETD2, EGFR mutations
EGFR; Exon 20 mutations
|
 
|Yes
EXAMPLE: BRAF; Activating mutations
|No
|EXAMPLE: TSG
|Unknown
|EXAMPLE: 20% (COSMIC)
|All (Benign, borderline, and malignant) grades
 
<br />
EXAMPLE: 30% (add Reference)
|-
|EXAMPLE: IDH1 R123H
|TERT promoter
|EXAMPLE: EGFR amplification
|
|
|
|
|
|
|
|
|-
|RARA
|
|
|
|
|
|
|
|
|-
|EGFR
|
|
|
|
|
|
|
|
|-
|TP53
|
|
|
|
|
|
|
|
|-
|PIK3CA
|
|
|
|
|
|
|
|
|-
|KMT2D (synonym MLL2)
|
|
|
|
|
|
|
|
|-
|ZNF703
|
|
|
|
|
|
|
|
|-
|SETD2
|
|
|
|
|
|
|
|
|-
|FLNA
|
|
|
|
|
|
|
|
|-
|RB1
|
|
|
|
|
|
|
|
|-
|NF1
|
|
|
|
|
|
|
|
|
|
|
|EXAMPLE:  Excludes hairy cell leukemia (HCL) (add reference).
<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.
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.
Retrieved from "https://test.ccga.io/index.php/BRST5:Phyllodes_tumour"