Compendium of Cancer Genome Aberrations

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{{Under Construction}}
{{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
Katherine Geiersbach, MD, Mayo Clinic - Rochester, MN, USA
==WHO Classification of Disease==


Morteza Seifi, PhD, University of Wisconsin
{| class="wikitable"
 
!Structure
__TOC__
!Disease
 
|-
==Cancer Category/Type==
|Book
 
|Breast Tumours (5th ed.)
Breast Tumours /  Epithelial tumours of the breast
|-
 
|Category
==Cancer Sub-Classification / Subtype==
|Epithelial tumours of the breast
 
|-
Rare and salivary gland-type tumours / Secretory carcinoma
|Family
 
|Rare and salivary gland-type tumours: Introduction
==Definition / Description of Disease==
|-
 
|Type
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.
|Secretory carcinoma
|-
|Subtype(s)
|N/A
|}


==Synonyms / Terminology==
==Related 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>{{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> (Breast 2012;21:350 PMID: 22494666, J Surg Oncol 2016;113:721 PMID: 27040042)
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> (JAMA 1966;195:388 PMID: 4285563)
Wide age range, bimodal age distribution with peaks in second and seventh decades<ref name=":0" /> (Breast 2012;21:350 PMID: 22494666, Diagn Histopathol 2020;26:51[C1] )
M:F = 1:6 to 1:31 (World J Surg Oncol 2005;3:35 PMID: 15963235, Mod Pathol 2012;25:567 PMID: 22157932, J Surg Oncol 2016;113:721 PMID: 27040042 , Ann Oncol 2000;11:1343 PMID: 11106125 )
==Clinical Features==
Put your text here and fill in the table
{| class="wikitable"
{| class="wikitable"
|'''Signs and Symptoms'''
|+
|Well-circumscribed mobile masses
|Acceptable
|N/A
|-
|-
|'''Laboratory Findings'''
|Not Recommended
|Not applicable
|Juvenile breast carcinoma {4285563}
|}
|}


==Sites of Involvement==
==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''.]]
<br />
 
 


The tumors are commonly seen in sub-areolar area.


==Morphologic Features==


Microcystic, solid and tubular patterns


==Immunophenotype==


Put your text here and fill in the table


{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Finding!!Marker
!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
|-
|-
|Positive (universal)||S100, EMA, TRK
|''NTRK3''
|''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.
|-
|-
|Positive (subset)||CEA (polyclonal), mammaglobin, SOX10
|
|-
|
|Negative (universal)||ER, PR, and HER2
|
|-
|
|Negative (subset)||
|
|
|
|
|}
|}


==Chromosomal Rearrangements (Gene Fusions)==


Put your text here and fill in the table
{| class="wikitable sortable"
|-
!Chromosomal Rearrangement!!Genes in Fusion (5’ or 3’ Segments)!!Pathogenic Derivative!!Prevalence
!Diagnostic Significance (Yes, No or Unknown)
!Prognostic Significance (Yes, No or Unknown)
!Therapeutic Significance (Yes, No or Unknown)
!Notes
|-
|t(12;15)(p13;q25)||''ETV6::NTRK3''||der(15)||92% (PMID: 12450792)
|Yes
|Yes
|Yes
|The ''ETV6::NTRK3'' fusion is diagnostic of secretory carcinoma of breast in the appropriate morphology and clinical context (Cancer Cell. 2002 Nov;2(5):367-76. PMID: 12450792). This fusion is responsive to targeted therapy such as larotrectinib (Vitrakvi) and  entrectinib (Rozlytrek) (ESMO Open
. 2021 Apr;6(2):100072 <nowiki>PMID 33676294</nowiki>).
|}
==Individual Region Genomic Gain/Loss/LOH==
==Individual Region Genomic Gain/Loss/LOH==
 
<br />
Put your text here and fill in the table
 
{| 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"
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!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
None
==Additional Information==
==Additional Information==
 
<br />
Put your text here
 
==Links==
==Links==
https://www.pathologyoutlines.com/topic/breastmalignantjuvenile.html


Put your text placeholder here (use "Link" icon at top of page)
<br />
==Notes==


Prior Author(s):
==References==
==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]]
#Arce, C; et al. (2005-06) Secretory carcinoma of the breast containing the ETV6-NTRK3 fusion gene in a male: case report and review of the literature. ''World J Surg Oncol.'' '''17''':3:35. doi: 10.1186/1477-7819-3-35. doi: 10.1186/1477-7819-3-35. PMC PMC1184104 <nowiki>PMID 15963235</nowiki> Krings G, et al., (2019). 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.
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