Difference between revisions of "BRST5:Acinic cell carcinoma"

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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); to add (or move) a row or column to a table, click nearby within the table and select the > symbol that appears to be given options. 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>
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{{DISPLAYTITLE:Acinic cell carcinoma}}
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==Primary Author(s)*==
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Put your text here<span style="color:#0070C0"> (''<span class="blue-text">EXAMPLE:</span>'' Jane Smith, PhD) </span>
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[[BRST5:Table_of_Contents|Breast Tumours (WHO Classification, 5th ed.)]]
 +
 
 +
Katherine Geiersbach, MD
 
==WHO Classification of Disease==
 
==WHO Classification of Disease==
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<span style="color:#0070C0">(Will be autogenerated; Book will include name of specific book and have a link to the online WHO site)</span>
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{| class="wikitable"
 
{| class="wikitable"
 
!Structure
 
!Structure
Line 9: Line 11:
 
|-
 
|-
 
|Book
 
|Book
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|
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|Breast Tumours (5th ed.)
 
|-
 
|-
 
|Category
 
|Category
−
|
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|Epithelial tumours of the breast
 
|-
 
|-
 
|Family
 
|Family
−
|
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|Rare and salivary gland-type tumours: Introduction
 
|-
 
|-
 
|Type
 
|Type
−
|
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|Acinic cell carcinoma
 
|-
 
|-
 
|Subtype(s)
 
|Subtype(s)
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|
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|N/A
 
|}
 
|}
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==Definition / Description of Disease==
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Put your text here <span style="color:#0070C0">(''Instructions: Brief description of approximately one paragraph - include disease context relative to other WHO classification categories, diagnostic criteria if applicable, and differential diagnosis if applicable. Other classifications can be referenced for comparison.'') </span>
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==WHO Essential and Desirable Genetic Diagnostic Criteria==
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==Synonyms / Terminology==
 
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Put your text here <span style="color:#0070C0">(''Instructions: Include currently used terms and major historical ones, adding “(historical)” after the latter.'') </span>
 
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==Epidemiology / Prevalence==
 
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Put your text here
 
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==Clinical Features==
 
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Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table. Do not delete table.'') </span>
 
 
{| class="wikitable"
 
{| class="wikitable"
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|'''Signs and Symptoms'''
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|+
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|<span class="blue-text">EXAMPLE:</span> Asymptomatic (incidental finding on complete blood counts)
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|WHO Essential Criteria (Genetics)*
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<span class="blue-text">EXAMPLE:</span> B-symptoms (weight loss, fever, night sweats)
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|
−
 
+
|-
−
<span class="blue-text">EXAMPLE:</span> Lymphadenopathy (uncommon)
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|WHO Desirable Criteria (Genetics)*
 +
|
 
|-
 
|-
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|'''Laboratory Findings'''
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|Other Classification
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|<span class="blue-text">EXAMPLE:</span> Cytopenias
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|
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<span class="blue-text">EXAMPLE:</span> Lymphocytosis (low level)
 
 
|}
 
|}
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==Sites of Involvement==
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<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>].
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Put your text here <span style="color:#0070C0">(''Instruction: Indicate physical sites; <span class="blue-text">EXAMPLE:</span> nodal, extranodal, bone marrow'') </span>
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==Related Terminology==
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==Morphologic Features==
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<span style="color:#0070C0">(''Instructions: The table will have the related terminology from the WHO <u>autocompleted</u>.)''</span>
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Put your text here <span style="color:#0070C0">(''Instructions: Brief description of typically approximately one paragraph'') </span>
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{| class="wikitable"
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==Immunophenotype==
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Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table. Do not delete table.'') </span>
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|Acceptable
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{| class="wikitable sortable"
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|
 
|-
 
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!Finding!!Marker
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|Not Recommended
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|-
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|
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|Positive (universal)||<span class="blue-text">EXAMPLE:</span> CD1
 
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|-
 
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|Positive (subset)||
 
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|-
 
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|Negative (universal)||
 
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|-
 
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|Negative (subset)||
 
 
|}
 
|}
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==Chromosomal Rearrangements (Gene Fusions)==
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Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table. Do not delete table.'')</span>
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==Gene Rearrangements==
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<br />
 
{| class="wikitable sortable"
 
{| class="wikitable sortable"
 
|-
 
|-
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!Chromosomal Rearrangement!!Genes in Fusion (5’ or 3’ Segments)!!Pathogenic Derivative!!Prevalence
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!Driver Gene!!Fusion(s) and Common Partner Genes!!Molecular Pathogenesis!!Typical Chromosomal Alteration(s)
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!Diagnostic Significance (Yes, No or Unknown)
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!Prevalence -Common >20%, Recurrent 5-20% or Rare <5% (Disease)
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!Prognostic Significance (Yes, No or Unknown)
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!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
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!Therapeutic Significance (Yes, No or Unknown)
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!Established Clinical Significance Per Guidelines - Yes or No (Source)
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!Notes
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!Clinical Relevance Details/Other Notes
 
|-
 
|-
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|<span class="blue-text">EXAMPLE:</span> t(9;22)(q34;q11.2)||<span class="blue-text">EXAMPLE:</span> 3'ABL1 / 5'BCR||<span class="blue-text">EXAMPLE:</span> der(22)||<span class="blue-text">EXAMPLE:</span> 20% (COSMIC)
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|
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<span class="blue-text">EXAMPLE:</span> 30% (add reference)
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|
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|<span class="blue-text">EXAMPLE:</span> Yes
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|
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|<span class="blue-text">EXAMPLE:</span> No
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|
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|<span class="blue-text">EXAMPLE:</span> Yes
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|<span class="blue-text">EXAMPLE:</span>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).
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|
 +
|
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|
 
|}
 
|}
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==Individual Region Genomic Gain / Loss / LOH==
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==Individual Region Genomic Gain/Loss/LOH==
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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. Do not delete table.'') </span>
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<br />
 
{| class="wikitable sortable"
 
{| class="wikitable sortable"
 
|-
 
|-
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!Chr #!!Gain / Loss / Amp / LOH!!Minimal Region Genomic Coordinates [Genome Build]!!Minimal Region Cytoband
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!Chr #!!'''Gain, Loss, Amp, LOH'''!!'''Minimal Region Cytoband and/or Genomic Coordinates [Genome Build; Size]'''!!'''Relevant Gene(s)'''
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!Diagnostic Significance (Yes, No or Unknown)
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!'''Diagnostic, Prognostic, and Therapeutic Significance - D, P, T'''
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!Prognostic Significance (Yes, No or Unknown)
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!'''Established Clinical Significance Per Guidelines - Yes or No (Source)'''
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!Therapeutic Significance (Yes, No or Unknown)
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!'''Clinical Relevance Details/Other Notes'''
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!Notes
 
 
|-
 
|-
−
|<span class="blue-text">EXAMPLE:</span>7
+
|
−
|<span class="blue-text">EXAMPLE:</span> Loss
+
|
−
|<span class="blue-text">EXAMPLE:</span>chr7:1-159,335,973 [hg38]
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|
−
|<span class="blue-text">EXAMPLE:</span>chr7
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|
−
|<span class="blue-text">EXAMPLE:</span> Yes
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|
−
|<span class="blue-text">EXAMPLE:</span> Yes
+
|
−
|<span class="blue-text">EXAMPLE:</span> No
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|
−
|<span class="blue-text">EXAMPLE:</span>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).
 
−
|-
 
−
|<span class="blue-text">EXAMPLE:</span>8
 
−
|<span class="blue-text">EXAMPLE:</span> Gain
 
−
|<span class="blue-text">EXAMPLE:</span>chr8:1-145,138,636 [hg38]
 
−
|<span class="blue-text">EXAMPLE:</span>chr8
 
−
|<span class="blue-text">EXAMPLE:</span> No
 
−
|<span class="blue-text">EXAMPLE:</span> No
 
−
|<span class="blue-text">EXAMPLE:</span> No
 
−
|<span class="blue-text">EXAMPLE:</span>Common recurrent secondary finding for t(8;21) (add reference).
 
 
|}
 
|}
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==Characteristic Chromosomal Patterns==
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==Characteristic Chromosomal or Other Global Mutational Patterns==
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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. Do not delete table.'')</span>
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Often high complexity genomic copy number profile, similar to other triple negative breast cancers, in contrast to other rare salivary gland type neoplasia of the breast.<ref name=":0">{{Cite journal|last=Geyer|first=Felipe C.|last2=Pareja|first2=Fresia|last3=Weigelt|first3=Britta|last4=Rakha|first4=Emad|last5=Ellis|first5=Ian O.|last6=Schnitt|first6=Stuart J.|last7=Reis-Filho|first7=Jorge S.|date=2017-10|title=The Spectrum of Triple-Negative Breast Disease: High- and Low-Grade Lesions|url=https://pubmed.ncbi.nlm.nih.gov/28736315|journal=The American Journal of Pathology|volume=187|issue=10|pages=2139–2151|doi=10.1016/j.ajpath.2017.03.016|issn=1525-2191|pmc=5809519|pmid=28736315}}</ref><ref>{{Cite journal|last=Guerini-Rocco|first=Elena|last2=Hodi|first2=Zsolt|last3=Piscuoglio|first3=Salvatore|last4=Ng|first4=Charlotte K. Y.|last5=Rakha|first5=Emad A.|last6=Schultheis|first6=Anne M.|last7=Marchiò|first7=Caterina|last8=da Cruz Paula|first8=Arnaud|last9=De Filippo|first9=Maria R.|date=2015-10|title=The repertoire of somatic genetic alterations of acinic cell carcinomas of the breast: an exploratory, hypothesis-generating study|url=https://pubmed.ncbi.nlm.nih.gov/26011570|journal=The Journal of Pathology|volume=237|issue=2|pages=166–178|doi=10.1002/path.4566|issn=1096-9896|pmc=5011405|pmid=26011570}}</ref>
 
{| 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'''
 
|-
 
|-
−
|<span class="blue-text">EXAMPLE:</span>Co-deletion of 1p and 18q
+
|
−
|<span class="blue-text">EXAMPLE:</span> Yes
+
|
−
|<span class="blue-text">EXAMPLE:</span> No
+
|
−
|<span class="blue-text">EXAMPLE:</span> No
+
|
−
|<span class="blue-text">EXAMPLE:</span>See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).
+
|
 +
|
 
|}
 
|}
−
==Gene Mutations (SNV / INDEL)==
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==Gene Mutations (SNV/INDEL)==
−
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. Do not delete table.'') </span>
+
<br />
 
{| 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'''
 
|-
 
|-
−
|<span class="blue-text">EXAMPLE:</span> ''TP53''; Variable LOF mutations
+
|''TP53''
−
<span class="blue-text">EXAMPLE:</span>
+
|SNV, deletion
−
 
+
|Tumor suppressor gene
−
''EGFR''; Exon 20 mutations
+
|Common
−
 
+
|P
−
<span class="blue-text">EXAMPLE:</span> ''BRAF''; Activating mutations
+
|
−
|<span class="blue-text">EXAMPLE:</span> TSG
+
|Similar to other triple negative breast cancers<ref name=":0" /><ref>{{Cite journal|last=Beca|first=Francisco|last2=Lee|first2=Simon S. K.|last3=Pareja|first3=Fresia|last4=Da Cruz Paula|first4=Arnaud|last5=Selenica|first5=Pier|last6=Ferrando|first6=Lorenzo|last7=Gularte-Mérida|first7=Rodrigo|last8=Wen|first8=Hannah Y.|last9=Zhang|first9=Hong|date=2019-12|title=Whole-exome sequencing and RNA sequencing analyses of acinic cell carcinomas of the breast|url=https://pubmed.ncbi.nlm.nih.gov/31361912|journal=Histopathology|volume=75|issue=6|pages=931–937|doi=10.1111/his.13962|issn=1365-2559|pmc=6878125|pmid=31361912}}</ref><ref>{{Cite journal|last=Geyer|first=Felipe C.|last2=Berman|first2=Samuel H.|last3=Marchiò|first3=Caterina|last4=Burke|first4=Kathleen A.|last5=Guerini-Rocco|first5=Elena|last6=Piscuoglio|first6=Salvatore|last7=Ng|first7=Charlotte Ky|last8=Pareja|first8=Fresia|last9=Wen|first9=Hannah Y.|date=2017-01|title=Genetic analysis of microglandular adenosis and acinic cell carcinomas of the breast provides evidence for the existence of a low-grade triple-negative breast neoplasia family|url=https://pubmed.ncbi.nlm.nih.gov/27713419|journal=Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc|volume=30|issue=1|pages=69–84|doi=10.1038/modpathol.2016.161|issn=1530-0285|pmc=5221420|pmid=27713419}}</ref><ref>{{Cite journal|last=Ajkunic|first=Azra|last2=Skenderi|first2=Faruk|last3=Shaker|first3=Nada|last4=Akhtar|first4=Saghir|last5=Lamovec|first5=Janez|last6=Gatalica|first6=Zoran|last7=Vranic|first7=Semir|date=2022-12|title=Acinic cell carcinoma of the breast: A comprehensive review|url=https://pubmed.ncbi.nlm.nih.gov/36332545|journal=Breast (Edinburgh, Scotland)|volume=66|pages=208–216|doi=10.1016/j.breast.2022.10.012|issn=1532-3080|pmc=9636467|pmid=36332545}}</ref>
−
|<span class="blue-text">EXAMPLE:</span> 20% (COSMIC)
+
|-
−
<span class="blue-text">EXAMPLE:</span> 30% (add Reference)
+
|''PIK3CA''
−
|<span class="blue-text">EXAMPLE:</span> ''IDH1'' R123H
+
|SNV
−
|<span class="blue-text">EXAMPLE:</span> ''EGFR'' amplification
+
|Oncogene
−
|<span class="blue-text">EXAMPLE:</span> Yes
+
|Recurrent
−
|<span class="blue-text">EXAMPLE:</span> No
+
|
−
|<span class="blue-text">EXAMPLE:</span> No
+
|
−
|<span class="blue-text">EXAMPLE:</span> Excludes hairy cell leukemia (HCL) (add reference).
+
|
−
|}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 [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==
−
Put your text here
+
<br />
 
==Genes and Main Pathways Involved==
 
==Genes and Main Pathways Involved==
−
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Can include references in the table. Do not delete 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"
 
|-
 
|-
 
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
 
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
 
|-
 
|-
−
|<span class="blue-text">EXAMPLE:</span> ''BRAF'' and ''MAP2K1''; Activating mutations
+
|''TP53''
−
|<span class="blue-text">EXAMPLE:</span> MAPK signaling
+
|DNA damage response
−
|<span class="blue-text">EXAMPLE:</span> Increased cell growth and proliferation
+
|DNA damage, genomic instability
 
|-
 
|-
−
|<span class="blue-text">EXAMPLE:</span> ''CDKN2A''; Inactivating mutations
+
|''PIK3CA''
−
|<span class="blue-text">EXAMPLE:</span> Cell cycle regulation
+
|PI3K/Akt/mTOR pathway
−
|<span class="blue-text">EXAMPLE:</span> Unregulated cell division
+
|Increased cell growth and proliferation
 
|-
 
|-
−
|<span class="blue-text">EXAMPLE:</span> ''KMT2C'' and ''ARID1A''; Inactivating mutations
+
|
−
|<span class="blue-text">EXAMPLE:</span> Histone modification, chromatin remodeling
+
|
−
|<span class="blue-text">EXAMPLE:</span> Abnormal gene expression program
+
|
 
|}
 
|}
 
==Genetic Diagnostic Testing Methods==
 
==Genetic Diagnostic Testing Methods==
−
Put your text here
+
<br />
 
==Familial Forms==
 
==Familial Forms==
−
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>
+
<br />
 
==Additional Information==
 
==Additional Information==
−
Put your text here
+
<br />
 
==Links==
 
==Links==
−
(use the "Link" icon that looks like two overlapping circles at the top of the page) <span style="color:#0070C0">(''Instructions: Highlight text to which you want to add a link in this section or elsewhere, 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 by including the "<nowiki>http://www</nowiki>." portion.'')</span>
+
https://www.pathologyoutlines.com/topic/breastmalignantaciniccellcarcinoma.html
 
==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>
+
<br />
 
==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 CCGA coordinators (contact information provided on the homepage).  Additional global feedback or concerns are also welcome.
+
<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):
 +
<nowiki>*</nowiki>''Citation of this Page'': “Acinic cell carcinoma”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/BRST5:Acinic cell carcinoma</nowiki>.
 +
[[Category:BRST5]]
 +
[[Category:DISEASE]]
 +
[[Category:Diseases A]]

Latest revision as of 17:04, 16 April 2025


Breast Tumours (WHO Classification, 5th ed.)

Katherine Geiersbach, MD

WHO Classification of Disease

Structure Disease
Book Breast Tumours (5th ed.)
Category Epithelial tumours of the breast
Family Rare and salivary gland-type tumours: Introduction
Type Acinic cell carcinoma
Subtype(s) N/A

WHO Essential and Desirable Genetic Diagnostic Criteria

WHO Essential Criteria (Genetics)*
WHO Desirable Criteria (Genetics)*
Other Classification

*Note: These are only the genetic/genomic criteria. Additional diagnostic criteria can be found in the WHO Classification of Tumours.

Related Terminology

(Instructions: The table will have the related terminology from the WHO autocompleted.)

Acceptable
Not Recommended

Gene Rearrangements


Driver Gene Fusion(s) and Common Partner Genes Molecular Pathogenesis Typical Chromosomal Alteration(s) 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

Individual Region Genomic Gain/Loss/LOH


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

Characteristic Chromosomal or Other Global Mutational Patterns

Often high complexity genomic copy number profile, similar to other triple negative breast cancers, in contrast to other rare salivary gland type neoplasia of the breast.[1][2]

Chromosomal Pattern 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 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
TP53 SNV, deletion Tumor suppressor gene Common P Similar to other triple negative breast cancers[1][3][4][5]
PIK3CA SNV Oncogene Recurrent

Note: A more extensive list of mutations can be found in cBioportal, COSMIC, and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.

Epigenomic Alterations


Genes and Main Pathways Involved

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Gene; Genetic Alteration Pathway Pathophysiologic Outcome
TP53 DNA damage response DNA damage, genomic instability
PIK3CA PI3K/Akt/mTOR pathway Increased cell growth and proliferation

Genetic Diagnostic Testing Methods


Familial Forms


Additional Information


Links

https://www.pathologyoutlines.com/topic/breastmalignantaciniccellcarcinoma.html

References


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 Associate Editor 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): *Citation of this Page: “Acinic cell carcinoma”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated 04/16/2025, https://ccga.io/index.php/BRST5:Acinic cell carcinoma.

  1. ↑ Jump up to: 1.0 1.1 Geyer, Felipe C.; et al. (2017-10). "The Spectrum of Triple-Negative Breast Disease: High- and Low-Grade Lesions". The American Journal of Pathology. 187 (10): 2139–2151. doi:10.1016/j.ajpath.2017.03.016. ISSN 1525-2191. PMC 5809519. PMID 28736315. Check date values in: |date= (help)
  2. ↑ Guerini-Rocco, Elena; et al. (2015-10). "The repertoire of somatic genetic alterations of acinic cell carcinomas of the breast: an exploratory, hypothesis-generating study". The Journal of Pathology. 237 (2): 166–178. doi:10.1002/path.4566. ISSN 1096-9896. PMC 5011405. PMID 26011570. Check date values in: |date= (help)
  3. ↑ Beca, Francisco; et al. (2019-12). "Whole-exome sequencing and RNA sequencing analyses of acinic cell carcinomas of the breast". Histopathology. 75 (6): 931–937. doi:10.1111/his.13962. ISSN 1365-2559. PMC 6878125. PMID 31361912. Check date values in: |date= (help)
  4. ↑ Geyer, Felipe C.; et al. (2017-01). "Genetic analysis of microglandular adenosis and acinic cell carcinomas of the breast provides evidence for the existence of a low-grade triple-negative breast neoplasia family". Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc. 30 (1): 69–84. doi:10.1038/modpathol.2016.161. ISSN 1530-0285. PMC 5221420. PMID 27713419. Check date values in: |date= (help)
  5. ↑ Ajkunic, Azra; et al. (2022-12). "Acinic cell carcinoma of the breast: A comprehensive review". Breast (Edinburgh, Scotland). 66: 208–216. doi:10.1016/j.breast.2022.10.012. ISSN 1532-3080. PMC 9636467 Check |pmc= value (help). PMID 36332545 Check |pmid= value (help). Check date values in: |date= (help)
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