Difference between revisions of "BRST5:Secretory carcinoma"

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{{DISPLAYTITLE:Secretory carcinoma}}
  
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[[BRST5:Table_of_Contents|Breast Tumours (WHO Classification, 5th ed.)]]
 
==Primary Author(s)*==
 
==Primary Author(s)*==
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Hui Chen, MD, PhD, The University of Texas MD Anderson Cancer Center, Houston, TX, USA
  
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__TOC__
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Katherine Geiersbach, MD, Mayo Clinic - Rochester, MN, USA
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==WHO Classification of Disease==
  
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==Cancer Category/Type==
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{| class="wikitable"
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!Structure
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Breast cancer
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!Disease
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==Cancer Sub-Classification / Subtype==
 
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==Definition / Description of Disease==
 
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==Synonyms / Terminology==
 
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==Epidemiology / Prevalence==
 
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==Clinical Features==
 
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==Sites of Involvement==
 
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==Morphologic Features==
 
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==Immunophenotype==
 
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Put your text here and/or fill in the table
 
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{| class="wikitable sortable"
 
 
|-
 
|-
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! Finding  !! Marker
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|Book
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|Breast Tumours (5th ed.)
 
|-
 
|-
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|Positive (universal) || EXAMPLE CD1
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|Category
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|Epithelial tumours of the breast
 
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|Positive (subset) || EXAMPLE CD2
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|Family
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|Rare and salivary gland-type tumours: Introduction
 
|-
 
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|Negative (universal) || EXAMPLE CD3
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|Type
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|Secretory carcinoma
 
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|-
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|Negative (subset) || EXAMPLE CD4
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|Subtype(s)
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|N/A
 
|}
 
|}
  
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==Chromosomal Rearrangements (Gene Fusions)==
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==WHO Essential and Desirable Genetic Diagnostic Criteria==
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{| class="wikitable"
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Put your text here and/or fill in the table
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|WHO Essential Criteria (Genetics)*
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|
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|-
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|WHO Desirable Criteria (Genetics)*
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|''ETV6''::''NTRK3'' fusion
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|-
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|Other Classification
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|
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|}
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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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==Related Terminology==
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{| class="wikitable"
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|Acceptable
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|
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|-
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|Not Recommended
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|
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|}
  
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==Gene Rearrangements==
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[[File:ETV6-NTRK3 fusion diagram.tif|left|frameless|655x655px|Gene fusion diagram showing the canonical breakpoints in exon 5 of ''ETV6'' (NM_001987) and exon 15 of ''NTRK3'' (NM_001012338). Alternate fusion breakpoints include exon 4 of ''ETV6'' and exon 14 of ''NTRK3''.]]
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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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!Prevalence -Common >20%, Recurrent 5-20% or Rare <5% (Disease)
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!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
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!Established Clinical Significance Per Guidelines - Yes or No (Source)
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!Clinical Relevance Details/Other Notes
 
|-
 
|-
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|EXAMPLE t(9;22)(q34;q11.2) || EXAMPLE 3'ABL1 / 5'BCR || EXAMPLE der(22) || EXAMPLE 5%
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|''NTRK3''
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|''ETV6''::''NTRK3''<ref>{{Cite journal|last=Tognon|first=Cristina|last2=Knezevich|first2=Stevan R.|last3=Huntsman|first3=David|last4=Roskelley|first4=Calvin D.|last5=Melnyk|first5=Natalya|last6=Mathers|first6=Joan A.|last7=Becker|first7=Laurence|last8=Carneiro|first8=Fatima|last9=MacPherson|first9=Nicol|date=2002-11|title=Expression of the ETV6-NTRK3 gene fusion as a primary event in human secretory breast carcinoma|url=https://pubmed.ncbi.nlm.nih.gov/12450792|journal=Cancer Cell|volume=2|issue=5|pages=367–376|doi=10.1016/s1535-6108(02)00180-0|issn=1535-6108|pmid=12450792}}</ref>
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|Fusion results in constitutive activation of NTRK3 tyrosine kinase
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|t(12;15)(p13;q25)
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|Common
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|D, P, T
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|
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|The ''ETV6''::''NTRK3'' fusion is diagnostic of secretory carcinoma in the appropriate morphologic and clinical context.<ref>{{Cite journal|last=Arce|first=C.|last2=Cortes-Padilla|first2=D.|last3=Huntsman|first3=D. G.|last4=Miller|first4=M. A.|last5=Dueñnas-Gonzalez|first5=A.|last6=Alvarado|first6=A.|last7=Pérez|first7=V.|last8=Gallardo-Rincón|first8=D.|last9=Lara-Medina|first9=F.|date=2005-06-17|title=Secretory carcinoma of the breast containing the ETV6-NTRK3 fusion gene in a male: case report and review of the literature|url=https://pubmed.ncbi.nlm.nih.gov/15963235|journal=World Journal of Surgical Oncology|volume=3|pages=35|doi=10.1186/1477-7819-3-35|issn=1477-7819|pmc=1184104|pmid=15963235}}</ref><ref>{{Cite journal|last=Jacob|first=John Doromal|last2=Hodge|first2=Caitlin|last3=Franko|first3=Jan|last4=Pezzi|first4=Christopher M.|last5=Goldman|first5=Charles D.|last6=Klimberg|first6=Vicki Suzanne|date=2016-06|title=Rare breast cancer: 246 invasive secretory carcinomas from the National Cancer Data Base|url=https://pubmed.ncbi.nlm.nih.gov/27040042|journal=Journal of Surgical Oncology|volume=113|issue=7|pages=721–725|doi=10.1002/jso.24241|issn=1096-9098|pmid=27040042}}</ref><ref>{{Cite journal|last=Li|first=Dali|last2=Xiao|first2=Xiuying|last3=Yang|first3=Wentao|last4=Shui|first4=Ruohong|last5=Tu|first5=Xiaoyu|last6=Lu|first6=Hongfen|last7=Shi|first7=Daren|date=2012-04|title=Secretory breast carcinoma: a clinicopathological and immunophenotypic study of 15 cases with a review of the literature|url=https://pubmed.ncbi.nlm.nih.gov/22157932|journal=Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc|volume=25|issue=4|pages=567–575|doi=10.1038/modpathol.2011.190|issn=1530-0285|pmid=22157932}}</ref> This fusion is responsive to TRK inhibitor therapies such as larotrectinib abd entrectinib.
 
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|EXAMPLE t(8;21)(q22;q22) || EXAMPLE 5'RUNX1 / 3'RUNXT1 || EXAMPLE der(8) || EXAMPLE 5%
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==Characteristic Chromosomal Aberrations / Patterns==
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==Genomic Gain/Loss/LOH==
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==Individual Region Genomic Gain/Loss/LOH==
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<br />
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{| class="wikitable sortable"
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|-
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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, Prognostic, and Therapeutic Significance - D, P, T'''
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!'''Established Clinical Significance Per Guidelines - Yes or No (Source)'''
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!'''Clinical Relevance Details/Other Notes'''
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Put your text here and/or fill in the table
 
  
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==Characteristic Chromosomal or Other Global Mutational Patterns==
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<br />
 
{| class="wikitable sortable"
 
{| class="wikitable sortable"
 
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! Chromosome Number !! Gain/Loss/Amp/LOH !! Region
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!Chromosomal Pattern
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!Molecular Pathogenesis
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!'''Prevalence -'''
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'''Common >20%, Recurrent 5-20% or Rare <5% (Disease)'''
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!'''Diagnostic, Prognostic, and Therapeutic Significance - D, P, T'''
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!'''Established Clinical Significance Per Guidelines - Yes or No (Source)'''
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!'''Clinical Relevance Details/Other Notes'''
 
|-
 
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|EXAMPLE 8 || EXAMPLE Gain || EXAMPLE chr8:0-1000000
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|EXAMPLE 7 || EXAMPLE Loss || EXAMPLE chr7:0-1000000
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==Gene Mutations (SNV/INDEL)==
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Put your text here and/or fill in the tables
 
  
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==Gene Mutations (SNV/INDEL) ==
 
{| class="wikitable sortable"
 
{| class="wikitable sortable"
 
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! Gene !! Mutation !! Oncogene/Tumor Suppressor/Other !! Presumed Mechanism (LOF/GOF/Other; Driver/Passenger) !! Prevalence (COSMIC/TCGA/Other)
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!Gene!!'''Genetic Alteration'''!!'''Tumor Suppressor Gene, Oncogene, Other'''!!'''Prevalence -'''
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'''Common >20%, Recurrent 5-20% or Rare <5% (Disease)'''
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!'''Diagnostic, Prognostic, and Therapeutic Significance - D, P, T  '''
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!'''Established Clinical Significance Per Guidelines - Yes or No (Source)'''
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!'''Clinical Relevance Details/Other Notes'''
 
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| EXAMPLE TP53 || EXAMPLE R273H || EXAMPLE Tumor Suppressor || EXAMPLE LOF || EXAMPLE 20%
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===Other Mutations===
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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.
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==Epigenomic Alterations==
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<br />
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==Genes and Main Pathways Involved==
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<br />
 
{| class="wikitable sortable"
 
{| class="wikitable sortable"
 
|-
 
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! Type !! Gene/Region/Other
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!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
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|-
 
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| Concomitant Mutations || EXAMPLE IDH1 R123H
 
 
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|-
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| Secondary Mutations || EXAMPLE Trisomy 7
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|''NTRK3''; Activating fusion with 5' partner ''ETV6''
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|MAPK/PI3K/AKT signaling
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|Increased cell growth and proliferation
 
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|Mutually Exclusive || EXAMPLE EGFR Amplification
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|
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|}
  
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==Epigenomics (Methylation)==
 
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Put your text here
 
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==Genes and Main Pathways Involved==
 
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Put your text here
 
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==Diagnostic Testing Methods==
 
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Put your text here
 
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==Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications)==
 
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Put your text here
 
  
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==Genetic Diagnostic Testing Methods==
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FISH, RT-PCR, next generation sequencing
 
==Familial Forms==
 
==Familial Forms==
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None
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Put your text here
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==Additional Information==
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<br />
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==Other Information==
 
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Put your text here
 
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==Links==
 
==Links==
 +
https://www.pathologyoutlines.com/topic/breastmalignantjuvenile.html
  
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Put your links here
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<br />
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==Notes==  
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==References==
 
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=== EXAMPLE Book ===
 
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#Arber DA, et al., (2008). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, 4thedition.Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW, Editors. IARC Press: Lyon, France, p117-118.
 
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=== EXAMPLE Journal Article ===
 
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#Li Y, et al., (2001). Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia. Nat Genet 28:220-221, PMID 11431691.
 
  
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== Notes ==
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Prior Author(s):
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<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.
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==References ==
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<references />
 +
<nowiki>*</nowiki>''Citation of this Page'': “Secretory carcinoma”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/BRST5:Secretory carcinoma</nowiki>.
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[[Category:BRST5]]
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[[Category:DISEASE]]
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[[Category:Diseases S]]

Latest revision as of 11:32, 16 April 2025


Breast Tumours (WHO Classification, 5th ed.)

Primary Author(s)*

Hui Chen, MD, PhD, The University of Texas MD Anderson Cancer Center, Houston, TX, USA

Katherine Geiersbach, MD, Mayo Clinic - Rochester, MN, USA

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 Secretory carcinoma
Subtype(s) N/A

WHO Essential and Desirable Genetic Diagnostic Criteria

WHO Essential Criteria (Genetics)*
WHO Desirable Criteria (Genetics)* ETV6::NTRK3 fusion
Other Classification

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

Related Terminology

Acceptable
Not Recommended

Gene Rearrangements

Gene fusion diagram showing the canonical breakpoints in exon 5 of ETV6 (NM_001987) and exon 15 of NTRK3 (NM_001012338). Alternate fusion breakpoints include exon 4 of ETV6 and exon 14 of NTRK3.


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
NTRK3 ETV6::NTRK3[1] Fusion results in constitutive activation of NTRK3 tyrosine kinase t(12;15)(p13;q25) Common D, P, T The ETV6::NTRK3 fusion is diagnostic of secretory carcinoma in the appropriate morphologic and clinical context.[2][3][4] This fusion is responsive to TRK inhibitor therapies such as larotrectinib abd entrectinib.


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


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

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


Gene; Genetic Alteration Pathway Pathophysiologic Outcome
NTRK3; Activating fusion with 5' partner ETV6 MAPK/PI3K/AKT signaling Increased cell growth and proliferation


Genetic Diagnostic Testing Methods

FISH, RT-PCR, next generation sequencing

Familial Forms

None

Additional Information


Links

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


Notes

Prior Author(s):

References

  1. ↑ Tognon, Cristina; et al. (2002-11). "Expression of the ETV6-NTRK3 gene fusion as a primary event in human secretory breast carcinoma". Cancer Cell. 2 (5): 367–376. doi:10.1016/s1535-6108(02)00180-0. ISSN 1535-6108. PMID 12450792. Check date values in: |date= (help)
  2. ↑ Arce, C.; et al. (2005-06-17). "Secretory carcinoma of the breast containing the ETV6-NTRK3 fusion gene in a male: case report and review of the literature". World Journal of Surgical Oncology. 3: 35. doi:10.1186/1477-7819-3-35. ISSN 1477-7819. PMC 1184104. PMID 15963235.
  3. ↑ Jacob, John Doromal; et al. (2016-06). "Rare breast cancer: 246 invasive secretory carcinomas from the National Cancer Data Base". Journal of Surgical Oncology. 113 (7): 721–725. doi:10.1002/jso.24241. ISSN 1096-9098. PMID 27040042. Check date values in: |date= (help)
  4. ↑ Li, Dali; et al. (2012-04). "Secretory breast carcinoma: a clinicopathological and immunophenotypic study of 15 cases with a review of the literature". Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc. 25 (4): 567–575. doi:10.1038/modpathol.2011.190. ISSN 1530-0285. PMID 22157932. Check date values in: |date= (help)

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

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