Compendium of Cancer Genome Aberrations

BRST5:Secretory carcinoma: Difference between revisions

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==Primary Author(s)*==
==Primary Author(s)*==


Hui Chen, MD, PhD, MD Anderson Cancer Center
Hui Chen, MD, PhD, The University of Texas MD Anderson Cancer Center
 
Morteza Seifi, PhD, University of Wisconsin


__TOC__
__TOC__
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==Epidemiology / Prevalence==
==Epidemiology / Prevalence==


Secretory carcinomas account for less than 0.05% of all breast cancers. It has been reported in both genders, but predominantly in women.  
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==
==Clinical Features==
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|-
|-
|'''Laboratory Findings'''
|'''Laboratory Findings'''
|NA
|Not applicable
|}
|}


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!Finding!!Marker
!Finding!!Marker
|-
|-
|Positive (universal)||S100, EMA
|Positive (universal)||S100, EMA, TRK
|-
|-
|Positive (subset)||
|Positive (subset)||CEA (polyclonal), mammaglobin, SOX10
|-
|-
|Negative (universal)||ER, PR, and HER2
|Negative (universal)||ER, PR, and HER2
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!Notes
!Notes
|-
|-
|t(12;15)(p13;q25)||5’ETV6::3’NTRK3||der(15)||92% (PMID: 12450792)
|t(12;15)(p13;q25)||''ETV6::NTRK3''||der(15)||92% (PMID: 12450792)
|Yes
|Yes
|Yes
|Yes
|Yes
|Yes
|EXAMPLE
|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>).
The t(9;22) is diagnostic of CML in the appropriate morphology and clinical context (add reference). This fusion is responsive to targeted therapy such as Imatinib (Gleevec) (add reference).
|}
|}
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!Notes
!Notes
|-
|-
|EXAMPLE
|N/A
 
|N/A
7
|N/A
|EXAMPLE Loss
|N/A
|EXAMPLE
|N/A
 
|N/A
chr7:1- 159,335,973 [hg38]
|N/A
|EXAMPLE
|N/A
 
chr7
|Yes
|Yes
|No
|EXAMPLE
 
Presence of monosomy 7 (or 7q deletion) is sufficient for a diagnosis of AML with MDS-related changes when there is ≥20% blasts and no prior therapy (add reference).  Monosomy 7/7q deletion is associated with a poor prognosis in AML (add reference).
|-
|-
|EXAMPLE
|
 
|
8
|
|EXAMPLE Gain
|
|EXAMPLE
|
 
|
chr8:1-145,138,636 [hg38]
|
|EXAMPLE
|
 
chr8
|No
|No
|No
|EXAMPLE
 
Common recurrent secondary finding for t(8;21) (add reference).
|}
|}
==Characteristic Chromosomal Patterns==
==Characteristic Chromosomal Patterns==
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!Notes
!Notes
|-
|-
|EXAMPLE
|N/A
 
|N/A
Co-deletion of 1p and 18q
|N/A
|Yes
|N/A
|No
|
|No
|EXAMPLE:
 
See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).
|}
|}
==Gene Mutations (SNV/INDEL)==
==Gene Mutations (SNV/INDEL)==
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!Notes
!Notes
|-
|-
|EXAMPLE: TP53; Variable LOF mutations
|N/A
 
|N/A
EXAMPLE:
|N/A
 
|N/A
EGFR; Exon 20 mutations
|N/A
 
|N/A
EXAMPLE: BRAF; Activating mutations
|N/A
|EXAMPLE: TSG
|N/A
|EXAMPLE: 20% (COSMIC)
 
EXAMPLE: 30% (add Reference)
|EXAMPLE: IDH1 R123H
|EXAMPLE: EGFR amplification
|
|
|
|
|EXAMPLE:  Excludes hairy cell leukemia (HCL) (add reference).
<br />
|}
|}
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 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.
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==Epigenomic Alterations==
==Epigenomic Alterations==


Put your text here
N/A


==Genes and Main Pathways Involved==
==Genes and Main Pathways Involved==


Put your text here and fill in the table
<br />
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
|-
|-
|EXAMPLE: BRAF and MAP2K1; Activating mutations
|NTRK3 fusion; Activating mutations
|EXAMPLE: MAPK signaling
|Ras-Mek1 and PI3K-Akt pathways
|EXAMPLE: Increased cell growth and proliferation
|Increased cell growth and proliferation
|-
|-
|EXAMPLE: CDKN2A; Inactivating mutations
|
|EXAMPLE: Cell cycle regulation
|
|EXAMPLE: Unregulated cell division
|
|-
|-
|EXAMPLE:  KMT2C and ARID1A; Inactivating mutations
|
|EXAMPLE:  Histone modification, chromatin remodeling
|
|EXAMPLE:  Abnormal gene expression program
|
|}
|}
==Genetic Diagnostic Testing Methods==
==Genetic Diagnostic Testing Methods==
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==Familial Forms==
==Familial Forms==


Put your text here
None


==Additional Information==
==Additional Information==
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===EXAMPLE Book===
===EXAMPLE Book===


#Arber DA, et al., (2017). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors. IARC Press: Lyon, France, p129-171.
#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.


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