BRST5:Secretory carcinoma: Difference between revisions

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{{DISPLAYTITLE:Secretory carcinoma}}


[[BRST5:Table_of_Contents|Breast Tumours (WHO Classification, 5th ed.)]]
==Primary Author(s)*==
==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
__TOC__
==WHO Classification of Disease==


{| class="wikitable"
==Cancer Category/Type==
!Structure
 
!Disease
Breast cancer
|-
 
|Book
==Cancer Sub-Classification / Subtype==
|Breast Tumours (5th ed.)
 
|-
Put your text here
|Category
 
|Epithelial tumours of the breast
==Definition / Description of Disease==
|-
 
|Family
Put your text here
|Rare and salivary gland-type tumours: Introduction
 
|-
==Synonyms / Terminology==
|Type
 
|Secretory carcinoma
Put your text here
|-
|Subtype(s)
|N/A
|}


==WHO Essential and Desirable Genetic Diagnostic Criteria==
==Epidemiology / Prevalence==
{| class="wikitable"
|+
|WHO Essential Criteria (Genetics)*
|
|-
|WHO Desirable Criteria (Genetics)*
|''ETV6''::''NTRK3'' fusion
|-
|Other Classification
|
|}
<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>].
==Related Terminology==


{| class="wikitable"
Put your text here
|+
|Acceptable
|N/A
|-
|Not Recommended
|Juvenile breast carcinoma {4285563}
|}


==Gene Rearrangements==
==Clinical Features==
[[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''.]]
<br />


Put your text here


==Sites of Involvement==


Put your text here


==Morphologic Features==


Put your text here


==Immunophenotype==


Put your text here and/or fill in the table


{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Driver Gene!!Fusion(s) and Common Partner Genes!!Molecular Pathogenesis!!Typical Chromosomal Alteration(s)
! Finding  !! Marker
!Prevalence -Common >20%, Recurrent 5-20% or Rare <5% (Disease)
|-
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
|Positive (universal) || EXAMPLE CD1
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!Clinical Relevance Details/Other Notes
|-
|-
|''NTRK3''
|Positive (subset) || EXAMPLE CD2
|''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>
|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.<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.
|-
|-
|
|Negative (universal) || EXAMPLE CD3
|
|-
|
|Negative (subset) || EXAMPLE CD4
|
|
|
|
|
|}
|}


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


==Individual Region Genomic Gain/Loss/LOH==
<br />
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Chr #!!Gain, Loss, Amp, LOH!!Minimal Region Cytoband and/or Genomic Coordinates [Genome Build; Size]!!Relevant Gene(s)
! Chromosomal Rearrangement !! Genes in Fusion (5’ or 3’ Segments) !! Pathogenic Derivative !! Prevalence
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
|-
!Established Clinical Significance Per Guidelines - Yes or No (Source)
|EXAMPLE t(9;22)(q34;q11.2) || EXAMPLE 3'ABL1 / 5'BCR || EXAMPLE der(22) || EXAMPLE 5%
!Clinical Relevance Details/Other Notes
|-
|-
|
|EXAMPLE t(8;21)(q22;q22) || EXAMPLE 5'RUNX1 / 3'RUNXT1 || EXAMPLE der(8) || EXAMPLE 5%
|
|}
|
|
==Characteristic Chromosomal Aberrations / Patterns==
|
 
|
Put your text here
|
 
|}
==Genomic Gain/Loss/LOH==


Put your text here and/or fill in the table


==Characteristic Chromosomal or Other Global Mutational Patterns==
<br />
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Chromosomal Pattern
! Chromosome Number !! Gain/Loss/Amp/LOH !! Region
!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
|-
|-
|
|EXAMPLE 8 || EXAMPLE Gain || EXAMPLE chr8:0-1000000
|
|-
|
|EXAMPLE 7 || EXAMPLE Loss || EXAMPLE chr7:0-1000000
|
|}
|
|
==Gene Mutations (SNV/INDEL)==
|}


Put your text here and/or fill in the tables


==Gene Mutations (SNV/INDEL)==
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Gene!!Genetic Alteration!!Tumor Suppressor Gene, Oncogene, Other!!Prevalence -
! Gene !! Mutation !! Oncogene/Tumor Suppressor/Other !! Presumed Mechanism (LOF/GOF/Other; Driver/Passenger) !! Prevalence (COSMIC/TCGA/Other)
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
|-
|-
|
| EXAMPLE TP53 || EXAMPLE R273H || EXAMPLE Tumor Suppressor || EXAMPLE LOF || EXAMPLE 20%
|
|}
|
|
===Other Mutations===
|
|
|
|}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==
<br />
==Genes and Main Pathways Involved==
<br />
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
! Type !! Gene/Region/Other
|-
| Concomitant Mutations || EXAMPLE IDH1 R123H
|-
|-
|''NTRK3''; Activating fusion with 5' partner ''ETV6''
| Secondary Mutations || EXAMPLE Trisomy 7
|MAPK/PI3K/AKT signaling
|Increased cell growth and proliferation
|-
|-
|
|Mutually Exclusive || EXAMPLE EGFR Amplification
|
|
|}
|}


==Epigenomics (Methylation)==
Put your text here
==Genes and Main Pathways Involved==
Put your text here
==Diagnostic Testing Methods==
Put your text here
==Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications)==
Put your text here


==Genetic Diagnostic Testing Methods==
FISH, RT-PCR, next generation sequencing
==Familial Forms==
==Familial Forms==
None
 
==Additional Information==
Put your text here
<br />
 
==Other Information==
 
Put your text here
 
==Links==
==Links==
https://www.pathologyoutlines.com/topic/breastmalignantjuvenile.html


<br />
Put your links here
==Notes==


Prior Author(s):
==References==
==References==
<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>.
=== EXAMPLE Book ===
[[Category:BRST5]]
#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.
[[Category:DISEASE]]
 
[[Category:Diseases S]]
=== EXAMPLE Journal Article ===
#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.
 
== 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.

Revision as of 11:39, 26 July 2017

Primary Author(s)*

Cancer Category/Type

Breast cancer

Cancer Sub-Classification / Subtype

Put your text here

Definition / Description of Disease

Put your text here

Synonyms / Terminology

Put your text here

Epidemiology / Prevalence

Put your text here

Clinical Features

Put your text here

Sites of Involvement

Put your text here

Morphologic Features

Put your text here

Immunophenotype

Put your text here and/or fill in the table

Finding Marker
Positive (universal) EXAMPLE CD1
Positive (subset) EXAMPLE CD2
Negative (universal) EXAMPLE CD3
Negative (subset) EXAMPLE CD4

Chromosomal Rearrangements (Gene Fusions)

Put your text here and/or fill in the table

Chromosomal Rearrangement Genes in Fusion (5’ or 3’ Segments) Pathogenic Derivative Prevalence
EXAMPLE t(9;22)(q34;q11.2) EXAMPLE 3'ABL1 / 5'BCR EXAMPLE der(22) EXAMPLE 5%
EXAMPLE t(8;21)(q22;q22) EXAMPLE 5'RUNX1 / 3'RUNXT1 EXAMPLE der(8) EXAMPLE 5%

Characteristic Chromosomal Aberrations / Patterns

Put your text here

Genomic Gain/Loss/LOH

Put your text here and/or fill in the table

Chromosome Number Gain/Loss/Amp/LOH Region
EXAMPLE 8 EXAMPLE Gain EXAMPLE chr8:0-1000000
EXAMPLE 7 EXAMPLE Loss EXAMPLE chr7:0-1000000

Gene Mutations (SNV/INDEL)

Put your text here and/or fill in the tables

Gene Mutation Oncogene/Tumor Suppressor/Other Presumed Mechanism (LOF/GOF/Other; Driver/Passenger) Prevalence (COSMIC/TCGA/Other)
EXAMPLE TP53 EXAMPLE R273H EXAMPLE Tumor Suppressor EXAMPLE LOF EXAMPLE 20%

Other Mutations

Type Gene/Region/Other
Concomitant Mutations EXAMPLE IDH1 R123H
Secondary Mutations EXAMPLE Trisomy 7
Mutually Exclusive EXAMPLE EGFR Amplification

Epigenomics (Methylation)

Put your text here

Genes and Main Pathways Involved

Put your text here

Diagnostic Testing Methods

Put your text here

Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications)

Put your text here

Familial Forms

Put your text here

Other Information

Put your text here

Links

Put your links here

References

EXAMPLE Book

  1. 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.

EXAMPLE Journal Article

  1. 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.

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 CCGA coordinators (contact information provided on the homepage). Additional global feedback or concerns are also welcome.

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