Difference between revisions of "BRST5:Secretory carcinoma"

From Compendium of Cancer Genome Aberrations
Jump to navigation Jump to search
VisualWikitext
[checked revision][checked revision]
(added gene fusion diagram)
 
(4 intermediate revisions by 2 users not shown)
Line 1: Line 1:
−
<br />
+
{{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
 
Hui Chen, MD, PhD, The University of Texas MD Anderson Cancer Center, Houston, TX, USA
Line 5: Line 7:
 
Katherine Geiersbach, MD, Mayo Clinic - Rochester, MN, USA
 
Katherine Geiersbach, MD, Mayo Clinic - Rochester, MN, USA
 
==WHO Classification of Disease==
 
==WHO Classification of Disease==
−
<span style="color:#0070C0">(''Instructions: This table’s content from the WHO book will be <u>autocompleted</u>.'')</span>
+
 
 
{| class="wikitable"
 
{| class="wikitable"
 
!Structure
 
!Structure
Line 11: Line 13:
 
|-
 
|-
 
|Book
 
|Book
−
|
+
|Breast Tumours (5th ed.)
 
|-
 
|-
 
|Category
 
|Category
−
|
+
|Epithelial tumours of the breast
 
|-
 
|-
 
|Family
 
|Family
−
|
+
|Rare and salivary gland-type tumours: Introduction
 
|-
 
|-
 
|Type
 
|Type
−
|
+
|Secretory carcinoma
 
|-
 
|-
 
|Subtype(s)
 
|Subtype(s)
−
|
+
|N/A
 
|}
 
|}
 +
 
==WHO Essential and Desirable Genetic Diagnostic Criteria==
 
==WHO Essential and Desirable Genetic Diagnostic Criteria==
−
<span style="color:#0070C0">(''Instructions: The table will have the diagnostic criteria from the WHO book <u>autocompleted</u>; remove any <u>non</u>-genetics related criteria. If applicable, add text about other classification'' ''systems that define this entity and specify how the genetics-related criteria differ.'')</span>
 
 
{| class="wikitable"
 
{| class="wikitable"
 
|+
 
|+
Line 33: Line 35:
 
|-
 
|-
 
|WHO Desirable Criteria (Genetics)*
 
|WHO Desirable Criteria (Genetics)*
−
|
+
|''ETV6''::''NTRK3'' fusion
 
|-
 
|-
 
|Other Classification
 
|Other Classification
Line 40: Line 42:
 
<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>].
 
<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==
 
==Related Terminology==
−
<span style="color:#0070C0">(''Instructions: The table will have the related terminology from the WHO <u>autocompleted</u>.)''</span>
 
 
{| class="wikitable"
 
{| class="wikitable"
 
|+
 
|+
Line 51: Line 52:
  
 
==Gene Rearrangements==
 
==Gene Rearrangements==
−
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Details on clinical significance such as prognosis and other important information can be provided in the notes section. Please include references throughout the table. Do not delete the table.'')</span>
+
[[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 />
 
{| class="wikitable sortable"
 
{| class="wikitable sortable"
 
|-
 
|-
Line 67: Line 69:
 
|D, P, T
 
|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> This fusion is responsive to TRK inhibitor therapies such as larotrectinib abd entrectinib.
+
|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.
 
|-
 
|-
 
|
 
|
Line 78: Line 80:
 
|
 
|
 
|}
 
|}
 +
 +
 
==Individual Region Genomic Gain/Loss/LOH==
 
==Individual Region Genomic Gain/Loss/LOH==
 
<br />
 
<br />
Line 95: Line 99:
 
|
 
|
 
|}
 
|}
 +
 +
 
==Characteristic Chromosomal or Other Global Mutational Patterns==
 
==Characteristic Chromosomal or Other Global Mutational Patterns==
 
<br />
 
<br />
Line 114: Line 120:
 
|
 
|
 
|}
 
|}
−
==Gene Mutations (SNV/INDEL)==
+
 
−
<br />
+
 
 +
==Gene Mutations (SNV/INDEL) ==
 
{| class="wikitable sortable"
 
{| class="wikitable sortable"
 
|-
 
|-
Line 132: Line 139:
 
|
 
|
 
|}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==
 
<br />
 
<br />
Line 148: Line 157:
 
|
 
|
 
|}
 
|}
 +
 +
 
==Genetic Diagnostic Testing Methods==
 
==Genetic Diagnostic Testing Methods==
 
FISH, RT-PCR, next generation sequencing
 
FISH, RT-PCR, next generation sequencing
Line 158: Line 169:
  
 
<br />
 
<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 [[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):
−
==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 where you want to insert the reference, selecting the “Cite” icon at the top of the wiki page, and using the “Automatic” tab option to search by PMID to select the reference to insert. 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. To insert the same reference again later in the page, select the “Cite” icon and “Re-use” to find the reference; DO NOT insert the same reference twice using the “Automatic” tab as it will be treated as two separate references. The reference list in this section will be automatically generated and sorted''</span><span style="color:#0070C0">''.''</span><span style="color:#0070C0">)</span>
+
<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>.
−
<br />
+
[[Category:BRST5]]
 +
[[Category:DISEASE]]
 +
[[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.

Retrieved from "https://ccga.io/index.php?title=BRST5:Secretory_carcinoma&oldid=16948"