Compendium of Cancer Genome Aberrations

BRST5:Secretory carcinoma: Difference between revisions

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Created page with " ==Primary Author(s)*== __TOC__ ==Cancer Category/Type== Breast cancer ==Cancer Sub-Classification / Subtype== Put your text here ==Definition / Description of Disease==..."
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==Primary Author(s)*==
==Primary Author(s)*==
Hui Chen, MD, PhD, MD Anderson Cancer Center


__TOC__
__TOC__
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==Cancer Category/Type==
==Cancer Category/Type==


Breast Tumours /  Epithelial tumours of the breast
Breast cancer


==Cancer Sub-Classification / Subtype==
==Cancer Sub-Classification / Subtype==


Rare and salivary gland-type tumours / Secretory carcinoma
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==Definition / Description of Disease==
==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.
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==Synonyms / Terminology==
==Synonyms / Terminology==


Synonyms: Juvenile breast carcinoma (historical)
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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.  
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==Clinical Features==
==Clinical Features==


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{| class="wikitable"
|'''Signs and Symptoms'''
|Well-circumscribed mobile masses
|-
|'''Laboratory Findings'''
|NA
|}


==Sites of Involvement==
==Sites of Involvement==


The tumors are commonly seen in sub-areolar area.
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==Morphologic Features==
==Morphologic Features==


Microcystic, solid and tubular patterns
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==Immunophenotype==
==Immunophenotype==


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{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Finding!!Marker
! Finding   !! Marker
|-
|-
|Positive (universal)||S100, EMA
|Positive (universal) || EXAMPLE CD1
|-
|-
|Positive (subset)||
|Positive (subset) || EXAMPLE CD2
|-
|-
|Negative (universal)||ER, PR, and HER2
|Negative (universal) || EXAMPLE CD3
|-
|-
|Negative (subset)||
|Negative (subset) || EXAMPLE CD4
|}
|}


==Chromosomal Rearrangements (Gene Fusions)==
==Chromosomal Rearrangements (Gene Fusions)==


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{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Chromosomal Rearrangement!!Genes in Fusion (5’ or 3’ Segments)!!Pathogenic Derivative!!Prevalence
! 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)||5’ETV6::3’NTRK3||der(15)||92% (PMID: 12450792)
|EXAMPLE t(9;22)(q34;q11.2) || EXAMPLE 3'ABL1 / 5'BCR || EXAMPLE der(22) || EXAMPLE 5%
|Yes
|-
|Yes
|EXAMPLE t(8;21)(q22;q22) || EXAMPLE 5'RUNX1 / 3'RUNXT1 || EXAMPLE der(8) || EXAMPLE 5%
|Yes
|EXAMPLE
 
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).
|}
|}
==Individual Region Genomic Gain/Loss/LOH==
==Characteristic Chromosomal Aberrations / Patterns==


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==Genomic Gain/Loss/LOH==
 
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{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Chr #!!Gain / Loss / Amp / LOH!!Minimal Region Genomic Coordinates [Genome Build]!!Minimal Region Cytoband
! Chromosome Number !! Gain/Loss/Amp/LOH !! Region
!Diagnostic Significance (Yes, No or Unknown)
!Prognostic Significance (Yes, No or Unknown)
!Therapeutic Significance (Yes, No or Unknown)
!Notes
|-
|-
|EXAMPLE
|EXAMPLE 8 || EXAMPLE Gain || EXAMPLE chr8:0-1000000
 
7
|EXAMPLE Loss
|EXAMPLE
 
chr7:1- 159,335,973 [hg38]
|EXAMPLE
 
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
|EXAMPLE 7 || EXAMPLE Loss || EXAMPLE chr7:0-1000000
 
|}
8
|EXAMPLE Gain
==Gene Mutations (SNV/INDEL)==
|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==


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{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Chromosomal Pattern
! Gene !! Mutation !! Oncogene/Tumor Suppressor/Other !! Presumed Mechanism (LOF/GOF/Other; Driver/Passenger) !! Prevalence (COSMIC/TCGA/Other)
!Diagnostic Significance (Yes, No or Unknown)
!Prognostic Significance (Yes, No or Unknown)
!Therapeutic Significance (Yes, No or Unknown)
!Notes
|-
|-
|EXAMPLE
| EXAMPLE TP53 || EXAMPLE R273H || EXAMPLE Tumor Suppressor || EXAMPLE LOF || EXAMPLE 20%
 
|}
Co-deletion of 1p and 18q
|Yes
===Other Mutations===
|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)==
 
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{| 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'''
! Type !! Gene/Region/Other
!'''Diagnostic Significance (Yes, No or Unknown)'''
|-
!Prognostic Significance (Yes, No or Unknown)
| Concomitant Mutations || EXAMPLE IDH1 R123H
!Therapeutic Significance (Yes, No or Unknown)
|-
!Notes
| Secondary Mutations || EXAMPLE Trisomy 7
|-
|-
|EXAMPLE: TP53; Variable LOF mutations
|Mutually Exclusive || EXAMPLE EGFR Amplification
|}


EXAMPLE:
==Epigenomics (Methylation)==


EGFR; Exon 20 mutations
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EXAMPLE: BRAF; Activating mutations
==Genes and Main Pathways Involved==
|EXAMPLE: TSG
|EXAMPLE: 20% (COSMIC)


EXAMPLE: 30% (add Reference)
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|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.


==Epigenomic Alterations==
==Diagnostic Testing Methods==


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==Genes and Main Pathways Involved==
==Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications)==


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{| class="wikitable sortable"
|-
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
|-
|EXAMPLE: BRAF and MAP2K1; Activating mutations
|EXAMPLE: MAPK signaling
|EXAMPLE: 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==
 
FISH, RT-PCR, RNAseq


==Familial Forms==
==Familial Forms==
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==Additional Information==
==Other Information==


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==Links==
==Links==


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Put your links here


==References==
==References==
<references />
(use "Cite" icon at top of page)
===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.
=== EXAMPLE Book ===
#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 ===
#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==
== 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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