BRST5:Adenoid cystic 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)*==
Katherine Geiersbach, MD, Mayo Clinic, and Jun Liao, PhD, Columbia University Irving Medical Center


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


Breast Cancer / Epithelial Tumours of the Breast
Breast cancer


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


Rare and Salivary Gland-type Tumours / Adenoid cystic carcinoma
Put your text here


==Definition / Description of Disease==
==Definition / Description of Disease==


Invasive carcinoma with a characteristic histologic pattern, comprised of epithelial and myoepithelial cells. Epithelial cells form glands with lumina containing mucoid material; associated stromal matrix is present, forming irregular spaces called pseudolumina. Subtypes include classic adenoid cystic carcinoma, solid-basaloid adenoid cystic carcinoma, and adenoid cystic carcinoma with high-grade transformation.
Put your text here


==Synonyms / Terminology==
==Synonyms / Terminology==


Cylindroma (Historical)
Put your text here


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


Rare; approximately 0.1% of all breast cancers
Put your text here


==Clinical Features==
==Clinical Features==
{| class="wikitable"
 
|'''Signs and Symptoms'''
Put your text here
|Palpable breast mass, mainly in elderly patients
Suspicious lesion on mammography
|-
|'''Laboratory Findings'''
|Not applicable
|}


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


Any quadrant of the breast; retroareolar most common
Put your text here


==Morphologic Features==
==Morphologic Features==


tubular, cribriform, and solid patterns
Put your text here


==Immunophenotype==
==Immunophenotype==
Put your text here and/or fill in the table


{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Finding!!Marker
! Finding   !! Marker
|-
|-
|Positive (universal)||Epithelial cells: low molecular weight cytokeratins CK7 and CK8; EMA
|Positive (universal) || EXAMPLE CD1
Myoepithelial cells: CK14, CK5/6, p63
|-
|-
|Positive (subset)||Epithelial cells: KIT (CD117)
|Positive (subset) || EXAMPLE CD2
Myoepithelial cells: heavy-chain myosin, calponin, S100, CD10
|-
|-
|Negative (universal)||ER, PR, HER2, neuroendocrine markers (chromogranin, synaptophysin)
|Negative (universal) || EXAMPLE CD3
|-
|-
|Negative (subset)||
|Negative (subset) || EXAMPLE CD4
|}
|}


==Chromosomal Rearrangements (Gene Fusions)==
==Chromosomal Rearrangements (Gene Fusions)==
Put your text here and/or fill in the table


{| 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)
|EXAMPLE t(9;22)(q34;q11.2) || EXAMPLE 3'ABL1 / 5'BCR || EXAMPLE der(22) || EXAMPLE 5%
!Therapeutic Significance (Yes, No or Unknown)
!Notes
|-
|-
|t(6;9)(q23.3;p23)||''MYB''::''NFIB''||der(6)||54%
|EXAMPLE t(8;21)(q22;q22) || EXAMPLE 5'RUNX1 / 3'RUNXT1 || EXAMPLE der(8) || EXAMPLE 5%
|Yes
|No
|Yes
|Most common fusion breakpoints involve exon 14 of MYB fused to exon 9 or exon 8c of NFIB
|}
|}
==Individual Region Genomic Gain/Loss/LOH==
==Characteristic Chromosomal Aberrations / Patterns==
 
Put your text here


Put your text here and fill in the table
==Genomic Gain/Loss/LOH==
 
Put your text here and/or fill in the table


{| 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
|-
|-
|6
|EXAMPLE 8 || EXAMPLE Gain || EXAMPLE chr8:0-1000000
|Gain
|chr6:135,502,453-135,540,311 [GRCh37/hg19]
|6q23.3
|Yes
|No
|No
|MYB amplification
|-
|-
|
|EXAMPLE 7 || EXAMPLE Loss || EXAMPLE chr7:0-1000000
|
|}
|
|
==Gene Mutations (SNV/INDEL)==
|
|
|
|
|}
==Characteristic Chromosomal Patterns==


Put your text here
Put your text here and/or fill in the tables


{| 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 TP53 || EXAMPLE R273H || EXAMPLE Tumor Suppressor || EXAMPLE LOF || EXAMPLE 20%
|
|}
|
|
===Other Mutations===
|
|}
==Gene Mutations (SNV/INDEL)==
 
Put your text here and fill in the table
 
{| 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
|-
|-
|NOTCH1; inactivating sequence variants (missense, nonsense, truncating)
| Secondary Mutations || EXAMPLE Trisomy 7
|Loss of function
|26%
|
|
|
|
|
|Mostly solid basaloid subtype<br />
|-
|-
|CREBBP; inactivating sequence variants (missense, nonsense, truncating)
|Mutually Exclusive || EXAMPLE EGFR Amplification
|Loss of function
|21%
|
|
|
|
|
|Mostly solid basaloid subtype
|}
|}
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==
==Epigenomics (Methylation)==


Put your text here
Put your text here
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==Genes and Main Pathways Involved==
==Genes and Main Pathways Involved==


Put your text here and fill in the table
Put your text here
{| class="wikitable sortable"
 
|-
==Diagnostic Testing Methods==
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
 
|-
Put your text here
|MYB; gene fusion or amplification
 
|Cell cycle, DNA replication, DNA repair
==Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications)==
|Promotes cellular proliferation
|-
|
|
|
|-
|
|
|
|}
==Genetic Diagnostic Testing Methods==


FISH for MYB rearrangement; RT-PCR for MYB-NFIB fusion transcript; RNA-based sequencing (whole transcriptome or targeted)
Put your text here


==Familial Forms==
==Familial Forms==
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Put your text here
Put your text here


==Additional Information==
==Other Information==


Put your text here
Put your text here
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==Links==
==Links==


Put your text placeholder here (use "Link" icon at top of page)
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.

Revision as of 11:30, 26 July 2017

Primary Author(s)*

Cancer Category/Type

Breast cancer

Cancer Sub-Classification / Subtype

Put your text here

Definition / Description of Disease

Put your text here

Synonyms / Terminology

Put your text here

Epidemiology / Prevalence

Put your text here

Clinical Features

Put your text here

Sites of Involvement

Put your text here

Morphologic Features

Put your text here

Immunophenotype

Put your text here and/or fill in the table

Finding Marker
Positive (universal) EXAMPLE CD1
Positive (subset) EXAMPLE CD2
Negative (universal) EXAMPLE CD3
Negative (subset) EXAMPLE CD4

Chromosomal Rearrangements (Gene Fusions)

Put your text here and/or fill in the table

Chromosomal Rearrangement Genes in Fusion (5’ or 3’ Segments) Pathogenic Derivative Prevalence
EXAMPLE t(9;22)(q34;q11.2) EXAMPLE 3'ABL1 / 5'BCR EXAMPLE der(22) EXAMPLE 5%
EXAMPLE t(8;21)(q22;q22) EXAMPLE 5'RUNX1 / 3'RUNXT1 EXAMPLE der(8) EXAMPLE 5%

Characteristic Chromosomal Aberrations / Patterns

Put your text here

Genomic Gain/Loss/LOH

Put your text here and/or fill in the table

Chromosome Number Gain/Loss/Amp/LOH Region
EXAMPLE 8 EXAMPLE Gain EXAMPLE chr8:0-1000000
EXAMPLE 7 EXAMPLE Loss EXAMPLE chr7:0-1000000

Gene Mutations (SNV/INDEL)

Put your text here and/or fill in the tables

Gene Mutation Oncogene/Tumor Suppressor/Other Presumed Mechanism (LOF/GOF/Other; Driver/Passenger) Prevalence (COSMIC/TCGA/Other)
EXAMPLE TP53 EXAMPLE R273H EXAMPLE Tumor Suppressor EXAMPLE LOF EXAMPLE 20%

Other Mutations

Type Gene/Region/Other
Concomitant Mutations EXAMPLE IDH1 R123H
Secondary Mutations EXAMPLE Trisomy 7
Mutually Exclusive EXAMPLE EGFR Amplification

Epigenomics (Methylation)

Put your text here

Genes and Main Pathways Involved

Put your text here

Diagnostic Testing Methods

Put your text here

Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications)

Put your text here

Familial Forms

Put your text here

Other Information

Put your text here

Links

Put your links here

References

EXAMPLE Book

  1. 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

  1. 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

*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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