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)*==
 +
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
+
Katherine Geiersbach, MD, Mayo Clinic - Rochester, MN, USA
 
+
==WHO Classification of Disease==
Morteza Seifi, PhD, University of Wisconsin
 
 
 
__TOC__
 
 
 
==Cancer Category/Type==
 
 
 
Breast Tumours /  Epithelial tumours of the breast
 
 
 
==Cancer Sub-Classification / Subtype==
 
 
 
Rare and salivary gland-type tumours / Secretory carcinoma
 
 
 
==Definition / Description of Disease==
 
 
 
Secretory carcinoma is a low-grade tumor displaying pushing borders and areas of unequivocal stromal invasion. Tumors may show combinations of microcystic, solid and tubular patterns. The microcystic pattern is composed of irregular shaped small cysts lined with single layer of tumor cells and filled with eosinophilic secretions. The tubular pattern shows luminal eosinophil secretions. The microcystic and tubular patterns can mimic thyroid follicles and can merge into solid islands. Tumor cells are polygonal with granular eosinophilic to foamy cytoplasm. Tumor nuclei are slightly enlarged and regular in shape with inconspicuous nucleoli. Mitotic activity is rare.
 
 
 
==Synonyms / Terminology==
 
 
 
Synonyms: Juvenile breast carcinoma (historical)
 
 
 
==Epidemiology / Prevalence==
 
 
 
Rare, < 0.02% of all breast cancers. <ref name=":0">{{Cite journal|last=Horowitz|first=David P.|last2=Sharma|first2=Charu S.|last3=Connolly|first3=Eileen|last4=Gidea-Addeo|first4=Daniela|last5=Deutsch|first5=Israel|date=2012-06|title=Secretory carcinoma of the breast: results from the survival, epidemiology and end results database|url=https://pubmed.ncbi.nlm.nih.gov/22494666|journal=Breast (Edinburgh, Scotland)|volume=21|issue=3|pages=350–353|doi=10.1016/j.breast.2012.02.013|issn=1532-3080|pmid=22494666}}</ref><ref name=":1">{{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>
 
 
 
Initially described in children; most common childhood breast cancer. <ref>{{Cite journal|last=McDivitt|first=R. W.|last2=Stewart|first2=F. W.|date=1966-01-31|title=Breast carcinoma in children|url=https://pubmed.ncbi.nlm.nih.gov/4285563|journal=JAMA|volume=195|issue=5|pages=388–390|issn=0098-7484|pmid=4285563}}</ref>
 
 
 
Wide age range, bimodal age distribution with peaks in second and seventh decades <ref name=":0" />
 
 
 
M:F = 1:6 to 1:31. <ref name=":1" /><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=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><ref>{{Cite journal|last=Herz|first=H.|last2=Cooke|first2=B.|last3=Goldstein|first3=D.|date=2000-10|title=Metastatic secretory breast cancer. Non-responsiveness to chemotherapy: case report and review of the literature|url=https://pubmed.ncbi.nlm.nih.gov/11106125|journal=Annals of Oncology: Official Journal of the European Society for Medical Oncology|volume=11|issue=10|pages=1343–1347|doi=10.1023/a:1008387800525|issn=0923-7534|pmid=11106125}}</ref> 
 
 
 
==Clinical Features==
 
  
Put your text here and fill in the table
 
 
{| class="wikitable"
 
{| class="wikitable"
|'''Signs and Symptoms'''
+
!Structure
|Well-circumscribed mobile masses
+
!Disease
 +
|-
 +
|Book
 +
|Breast Tumours (5th ed.)
 +
|-
 +
|Category
 +
|Epithelial tumours of the breast
 +
|-
 +
|Family
 +
|Rare and salivary gland-type tumours: Introduction
 +
|-
 +
|Type
 +
|Secretory carcinoma
 
|-
 
|-
|'''Laboratory Findings'''
+
|Subtype(s)
|Not applicable
+
|N/A
 
|}
 
|}
  
==Sites of Involvement==
+
==WHO Essential and Desirable Genetic Diagnostic Criteria==
 
+
{| class="wikitable"
The tumors are commonly seen in sub-areolar area.
+
|+
 
+
|WHO Essential Criteria (Genetics)*
==Morphologic Features==
+
|
 
 
Microcystic, solid and tubular patterns
 
 
 
==Immunophenotype==
 
 
 
Put your text here and fill in the table
 
 
 
{| class="wikitable sortable"
 
 
|-
 
|-
!Finding!!Marker
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|WHO Desirable Criteria (Genetics)*
 +
|''ETV6''::''NTRK3'' fusion
 
|-
 
|-
|Positive (universal)||S100, EMA, TRK
+
|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"
 +
|+
 +
|Acceptable
 +
|
 
|-
 
|-
|Positive (subset)||CEA (polyclonal), mammaglobin, SOX10
+
|Not Recommended
|-
+
|
|Negative (universal)||ER, PR, and HER2
 
|-
 
|Negative (subset)||
 
 
|}
 
|}
  
==Chromosomal Rearrangements (Gene Fusions)==
+
==Gene Rearrangements==
 
+
[[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''.]]
Put your text here and fill in the table
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<br />
 
 
 
{| class="wikitable sortable"
 
{| class="wikitable sortable"
 
|-
 
|-
!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)
!Diagnostic Significance (Yes, No or Unknown)
+
!Prevalence -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
 
|-
 
|-
|t(12;15)(p13;q25)||''ETV6::NTRK3''||der(15)||92% <ref name=":2" />
+
|''NTRK3''
|Yes
+
|''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>
|Yes
+
|Fusion results in constitutive activation of NTRK3 tyrosine kinase
|Yes
+
|t(12;15)(p13;q25)
|The ''ETV6::NTRK3'' fusion is diagnostic of secretory carcinoma of breast in the appropriate morphology and clinical context. <ref name=":2">{{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> This fusion is responsive to targeted therapy such as larotrectinib (Vitrakvi) and  entrectinib (Rozlytrek). <ref>{{Cite journal|last=Krebs|first=M. G.|last2=Blay|first2=J.-Y.|last3=Le Tourneau|first3=C.|last4=Hong|first4=D.|last5=Veronese|first5=L.|last6=Antoniou|first6=M.|last7=Bennett|first7=I.|date=2021-04|title=Intrapatient comparisons of efficacy in a single-arm trial of entrectinib in tumour-agnostic indications|url=https://pubmed.ncbi.nlm.nih.gov/33676294|journal=ESMO open|volume=6|issue=2|pages=100072|doi=10.1016/j.esmoop.2021.100072|issn=2059-7029|pmc=8103537|pmid=33676294}}</ref>
+
|Common
|}
+
|D, P, T
+
|
==Individual Region Genomic Gain/Loss/LOH==
+
|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.
 +
|-
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|
 +
|}
  
Put your text here and fill in the table
 
  
 +
==Individual Region Genomic Gain/Loss/LOH==
 +
<br />
 
{| class="wikitable sortable"
 
{| class="wikitable sortable"
 
|-
 
|-
!Chr #!!Gain / Loss / Amp / LOH!!Minimal Region Genomic Coordinates [Genome Build]!!Minimal Region Cytoband
+
!Chr #!!'''Gain, Loss, Amp, LOH'''!!'''Minimal Region Cytoband and/or Genomic Coordinates [Genome Build; Size]'''!!'''Relevant Gene(s)'''
!Diagnostic Significance (Yes, No or Unknown)
+
!'''Diagnostic, Prognostic, and Therapeutic Significance - D, P, T'''
!Prognostic Significance (Yes, No or Unknown)
+
!'''Established Clinical Significance Per Guidelines - Yes or No (Source)'''
!Therapeutic Significance (Yes, No or Unknown)
+
!'''Clinical Relevance Details/Other Notes'''
!Notes
 
 
|-
 
|-
|N/A
 
|N/A
 
|N/A
 
|N/A
 
|N/A
 
|N/A
 
|N/A
 
|N/A
 
|-
 
|
 
 
|
 
|
 
|
 
|
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|
 
|}
 
|}
==Characteristic Chromosomal Patterns==
 
  
Put your text here
 
  
 +
==Characteristic Chromosomal or Other Global Mutational Patterns==
 +
<br />
 
{| 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'''
 
|-
 
|-
|N/A
+
|
|N/A
+
|
|N/A
+
|
|N/A
+
|
 +
|
 
|
 
|
 
|}
 
|}
==Gene Mutations (SNV/INDEL)==
 
  
Put your text here and fill in the table
 
  
 +
==Gene Mutations (SNV/INDEL) ==
 
{| 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'''
 
|-
 
|-
|N/A
 
|N/A
 
|N/A
 
|N/A
 
|N/A
 
|N/A
 
|N/A
 
|N/A
 
 
|
 
|
|}
+
|
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==
 
+
<br />
N/A
 
 
 
 
==Genes and Main Pathways Involved==
 
==Genes and Main Pathways Involved==
 
 
<br />
 
<br />
 
{| class="wikitable sortable"
 
{| class="wikitable sortable"
Line 171: Line 149:
 
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
 
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
 
|-
 
|-
|NTRK3 fusion; Activating mutations
+
|''NTRK3''; Activating fusion with 5' partner ''ETV6''
|Ras-Mek1 and PI3K-Akt pathways
+
|MAPK/PI3K/AKT signaling
 
|Increased cell growth and proliferation
 
|Increased cell growth and proliferation
|-
 
|
 
|
 
|
 
 
|-
 
|-
 
|
 
|
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|
 
|
 
|}
 
|}
==Genetic Diagnostic Testing Methods==
 
  
FISH, RT-PCR, RNAseq
 
  
 +
==Genetic Diagnostic Testing Methods==
 +
FISH, RT-PCR, next generation sequencing
 
==Familial Forms==
 
==Familial Forms==
 
+
None
<br />
 
 
 
 
==Additional Information==
 
==Additional Information==
 
 
<br />
 
<br />
 
 
==Links==
 
==Links==
 +
https://www.pathologyoutlines.com/topic/breastmalignantjuvenile.html
  
Put your text placeholder here (use "Link" icon at top of page)
+
<br />
 +
==Notes==
  
==References==
+
Prior Author(s):
 +
==References ==
 
<references />
 
<references />
(use "Cite" icon at top of page)
+
<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]]
 
+
[[Category:DISEASE]]
#Secretory carcinoma, in World Health Organization Classification of Tumours of Breast Tumours, Revised 5th edition. Allison KH, Brogi E, Ellis IO, Fox SB, Morris EA, Sahin A, Salgado R, Sapino A, Sasano H, Schnitt SJ, Sotiriou C, van Diest PJ, Editorial board expert members. IARC Press: Lyon, France, p146-148.
+
[[Category:Diseases S]]
 
 
==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.
 

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.