BRST5:Adenoid cystic carcinoma: Difference between revisions

From Compendium of Cancer Genome Aberrations
Jump to navigation Jump to search
← Older editNewer edit →
VisualWikitext
Kgeiersbach (talk | contribs)
editor, reviewer
126 edits
Hchen (talk | contribs)
77 edits
Created page with " ==Primary Author(s)*== __TOC__ ==Cancer Category/Type== Breast cancer ==Cancer Sub-Classification / Subtype== Put your text here ==Definition / Description of Disease==..."
(4 intermediate revisions by 2 users not shown)
Line 1: Line 1:
==Primary Author(s)*==
==Primary Author(s)*==
Katherine Geiersbach, MD, Mayo Clinic, and Jun Liao, PhD, Columbia University Irving Medical Center


__TOC__
__TOC__
Line 7: Line 6:
==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; SOX10<ref name=":0">{{Cite journal|last=Yang|first=Chen|last2=Zhang|first2=Lingxin|last3=Sanati|first3=Souzan|date=2019|title=SOX10 Is a Sensitive Marker for Breast and Salivary Gland Adenoid Cystic Carcinoma: Immunohistochemical Characterization of Adenoid Cystic Carcinomas|url=https://pubmed.ncbi.nlm.nih.gov/31105427|journal=Breast Cancer: Basic and Clinical Research|volume=13|pages=1178223419842185|doi=10.1177/1178223419842185|issn=1178-2234|pmc=6501487|pmid=31105427}}</ref>
|Positive (universal) || EXAMPLE CD1
Myoepithelial cells: MYB<ref>{{Cite journal|last=Poling|first=Justin S.|last2=Yonescu|first2=Raluca|last3=Subhawong|first3=Andrea P.|last4=Sharma|first4=Rajni|last5=Argani|first5=Pedram|last6=Ning|first6=Yi|last7=Cimino-Mathews|first7=Ashley|date=2017-07|title=MYB Labeling by Immunohistochemistry Is More Sensitive and Specific for Breast Adenoid Cystic Carcinoma than MYB Labeling by FISH|url=https://pubmed.ncbi.nlm.nih.gov/28498281|journal=The American Journal of Surgical Pathology|volume=41|issue=7|pages=973–979|doi=10.1097/PAS.0000000000000878|issn=1532-0979|pmid=28498281}}</ref>; CK14, CK5/6, SOX10<ref name=":0" />
|-
|-
|Positive (subset)||Epithelial cells: KIT (CD117)
|Positive (subset) || EXAMPLE CD2
Myoepithelial cells: heavy-chain myosin, calponin, S100, CD10, p63
|-
|-
|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)==
Recurrent rearrangements of MYB (or, more rarely, the paralogous gene ''MYBL1'') preserve the N-terminal DNA binding domain and transactivation domain in the chimeric gene product. The C-terminal regulatory domains of ''MYB'' or ''MYBL1'' may be lost, but the intact gene is retained in the case of MYB amplification and in the case of some ''MYBL1'' rearrangements.<ref name=":1">{{Cite journal|last=Persson|first=Marta|last2=Andrén|first2=Ywonne|last3=Mark|first3=Joachim|last4=Horlings|first4=Hugo M.|last5=Persson|first5=Fredrik|last6=Stenman|first6=Göran|date=2009-11-03|title=Recurrent fusion of MYB and NFIB transcription factor genes in carcinomas of the breast and head and neck|url=https://pubmed.ncbi.nlm.nih.gov/19841262|journal=Proceedings of the National Academy of Sciences of the United States of America|volume=106|issue=44|pages=18740–18744|doi=10.1073/pnas.0909114106|issn=1091-6490|pmc=2773970|pmid=19841262}}</ref><ref name=":2">{{Cite journal|last=Kim|first=Jisun|last2=Geyer|first2=Felipe C.|last3=Martelotto|first3=Luciano G.|last4=Ng|first4=Charlotte Ky|last5=Lim|first5=Raymond S.|last6=Selenica|first6=Pier|last7=Li|first7=Anqi|last8=Pareja|first8=Fresia|last9=Fusco|first9=Nicola|date=2018-02|title=MYBL1 rearrangements and MYB amplification in breast adenoid cystic carcinomas lacking the MYB-NFIB fusion gene|url=https://pubmed.ncbi.nlm.nih.gov/29149504|journal=The Journal of Pathology|volume=244|issue=2|pages=143–150|doi=10.1002/path.5006|issn=1096-9896|pmc=5839480|pmid=29149504}}</ref>
 
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)
!Therapeutic Significance (Yes, No or Unknown)
!Notes
|-
|t(6;9)(q23.3;p23)||''MYB''::''NFIB''||der(6)||54%
|Yes
|No
|Yes
|Most common fusion breakpoints involve exon 14 of ''MYB'' fused to exon 9 or exon 8c of ''NFIB''.<ref name=":1" /><ref>{{Cite journal|last=D'Alfonso|first=Timothy M.|last2=Mosquera|first2=Juan Miguel|last3=MacDonald|first3=Theresa Y.|last4=Padilla|first4=Jessica|last5=Liu|first5=Yi-Fang|last6=Rubin|first6=Mark A.|last7=Shin|first7=Sandra J.|date=2014-11|title=MYB-NFIB gene fusion in adenoid cystic carcinoma of the breast with special focus paid to the solid variant with basaloid features|url=https://pubmed.ncbi.nlm.nih.gov/25217885|journal=Human Pathology|volume=45|issue=11|pages=2270–2280|doi=10.1016/j.humpath.2014.07.013|issn=1532-8392|pmid=25217885}}</ref><ref name=":3">{{Cite journal|last=Martelotto|first=Luciano G.|last2=De Filippo|first2=Maria R.|last3=Ng|first3=Charlotte K. Y.|last4=Natrajan|first4=Rachael|last5=Fuhrmann|first5=Laetitia|last6=Cyrta|first6=Joanna|last7=Piscuoglio|first7=Salvatore|last8=Wen|first8=Huei-Chi|last9=Lim|first9=Raymond S.|date=2015-10|title=Genomic landscape of adenoid cystic carcinoma of the breast|url=https://pubmed.ncbi.nlm.nih.gov/26095796|journal=The Journal of Pathology|volume=237|issue=2|pages=179–189|doi=10.1002/path.4573|issn=1096-9896|pmc=4676955|pmid=26095796}}</ref>
|-
|t(8;9)(q13.1;p23)
|''MYBL1''::''NFIB''
|
|
|
|
|
|Reported breakpoints involve exon 14 of ''MYBL1'' fused to exon 9 of ''NFIB''<ref name=":2" />
|-
|-
|t(8;14)(q13.1;q24.1)
|EXAMPLE t(9;22)(q34;q11.2) || EXAMPLE 3'ABL1 / 5'BCR || EXAMPLE der(22) || EXAMPLE 5%
|''MYBL1''::''ACTN1''
|
|
|
|
|
|Reported breakpoints involve exon 8 of ''MYBL1'' fused to exon 10 of ''ACTN1''<ref name=":2" />
|-
|-
|rea(6)(q23.3)
|EXAMPLE t(8;21)(q22;q22) || EXAMPLE 5'RUNX1 / 3'RUNXT1 || EXAMPLE der(8) || EXAMPLE 5%
|MYB
|
|
|
|
|
|Loss of 3' portion of MYB reported in one case<ref name=":2" />
|}
|}
==Individual Region Genomic Gain/Loss/LOH==
==Characteristic Chromosomal Aberrations / Patterns==


Put your text here and fill in the table
Put your text here


{| class="wikitable sortable"
==Genomic Gain/Loss/LOH==
|-
!Chr #!!Gain / Loss / Amp / LOH!!Minimal Region Genomic Coordinates [Genome Build]!!Minimal Region Cytoband
!Diagnostic Significance (Yes, No or Unknown)
!Prognostic Significance (Yes, No or Unknown)
!Therapeutic Significance (Yes, No or Unknown)
!Notes
|-
|1
|Gain
|
|1p36.12–p35.3<ref name=":4">{{Cite journal|last=Wetterskog|first=Daniel|last2=Lopez-Garcia|first2=Maria Angeles|last3=Lambros|first3=Maryou B.|last4=A'Hern|first4=Roger|last5=Geyer|first5=Felipe C.|last6=Milanezi|first6=Fernanda|last7=Cabral|first7=Maria C.|last8=Natrajan|first8=Rachael|last9=Gauthier|first9=Arnaud|date=2012-01|title=Adenoid cystic carcinomas constitute a genomically distinct subgroup of triple-negative and basal-like breast cancers|url=https://pubmed.ncbi.nlm.nih.gov/22015727|journal=The Journal of Pathology|volume=226|issue=1|pages=84–96|doi=10.1002/path.2974|issn=1096-9896|pmid=22015727}}</ref>
|
|
|
|
|-
|6
|Gain/Amp
|chr6:135,502,453-135,540,311 [GRCh37/hg19]
|6q23.3
|Yes
|No
|No
|MYB amplification was a range of 3-10 copies by FISH associated with MYB overexpression<ref name=":2" />
|-
|11
|Gain
|
|11p15.5<ref name=":4" />
|
|
|
|
|-
|12
|Gain
|
|12p13.31<ref name=":4" />
|
|
|
|
|-
|16
|Gain
|
|16p13.3<ref name=":4" />
|
|
|
|
|-
|17
|Gain
|
|17q21-q25.1<ref name=":3" />
|
|
|
|
|-
|19
|Gain
|
|19p13<ref name=":4" />
|
|
|
|
|-
|
|
|
|
|
|
|
|
|-
|6
|Loss
|
|6q25.3-q26<ref name=":4" />, 6q23.3-6q27<ref>{{Cite journal|last=Fusco|first=Nicola|last2=Geyer|first2=Felipe C.|last3=De Filippo|first3=Maria R.|last4=Martelotto|first4=Luciano G.|last5=Ng|first5=Charlotte K. Y.|last6=Piscuoglio|first6=Salvatore|last7=Guerini-Rocco|first7=Elena|last8=Schultheis|first8=Anne M.|last9=Fuhrmann|first9=Laetitia|date=2016-11|title=Genetic events in the progression of adenoid cystic carcinoma of the breast to high-grade triple-negative breast cancer|url=https://pubmed.ncbi.nlm.nih.gov/27491809|journal=Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc|volume=29|issue=11|pages=1292–1305|doi=10.1038/modpathol.2016.134|issn=1530-0285|pmc=5083185|pmid=27491809}}</ref>
|
|
|
|
|-
|9
|Loss
|
|9p11.1–q21.11<ref name=":4" />
|
|
|
|
|-
|12
|Loss
|
|12q12-q14.1<ref name=":3" />
|
|
|
|
|}
==Characteristic Chromosomal Patterns==


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


{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Chromosomal Pattern
! Chromosome Number !! Gain/Loss/Amp/LOH !! Region
!Diagnostic Significance (Yes, No or Unknown)
|-
!Prognostic Significance (Yes, No or Unknown)
|EXAMPLE 8 || EXAMPLE Gain || EXAMPLE chr8:0-1000000
!Therapeutic Significance (Yes, No or Unknown)
!Notes
|-
|-
|
|EXAMPLE 7 || EXAMPLE Loss || EXAMPLE chr7:0-1000000
|
|}
|
|
|
|}
==Gene Mutations (SNV/INDEL)==
==Gene Mutations (SNV/INDEL)==


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


{| 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 !! 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
|-
|-
|NOTCH1, NOTCH2, and NOTCH3; inactivating sequence variants (missense, nonsense, frameshift truncating)<ref name=":5">{{Cite journal|last=Massé|first=Julie|last2=Truntzer|first2=Caroline|last3=Boidot|first3=Romain|last4=Khalifa|first4=Emmanuel|last5=Pérot|first5=Gaëlle|last6=Velasco|first6=Valérie|last7=Mayeur|first7=Laétitia|last8=Billerey-Larmonier|first8=Claire|last9=Blanchard|first9=Larry|date=2020-06|title=Solid-type adenoid cystic carcinoma of the breast, a distinct molecular entity enriched in NOTCH and CREBBP mutations|url=https://pubmed.ncbi.nlm.nih.gov/31857685|journal=Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc|volume=33|issue=6|pages=1041–1055|doi=10.1038/s41379-019-0425-3|issn=1530-0285|pmid=31857685}}</ref>
| EXAMPLE TP53 || EXAMPLE R273H || EXAMPLE Tumor Suppressor || EXAMPLE LOF || EXAMPLE 20%
|Loss of function
|}
|20-30%
|
===Other Mutations===
|
{| class="wikitable sortable"
|
|
|
|Mostly solid basaloid subtype<br />
|-
|-
|CREBBP; inactivating sequence variants (missense, nonsense, truncating)<ref name=":5" />
! Type !! Gene/Region/Other
|Loss of function
|15-20%
|
|
|
|
|
|Mostly solid basaloid subtype
|-
|-
|CDK12; missense<ref name=":5" />
| Concomitant Mutations || EXAMPLE IDH1 R123H
|Loss of function
|30-40%
|
|
|
|
|
|
|-
|-
|ARID1A<ref name=":5" />
| Secondary Mutations || EXAMPLE Trisomy 7
|
|
|
|
|
|
|
|
|-
|-
|PIK3R1<ref name=":5" />
|Mutually Exclusive || EXAMPLE EGFR Amplification
|
|
|
|
|
|
|
|
|}
|}
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
Line 303: Line 112:
==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 (MYC and NOTCH signaling), DNA replication, DNA repair
==Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications)==
|Promotes cellular proliferation
|-
|MYBL1; gene fusion
|
|
|-
|
|
|
|}
==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==
Line 328: Line 126:
Put your text here
Put your text here


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


Put your text here
Put your text here
Line 334: Line 132:
==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.

Retrieved from "https://test.ccga.io/index.php?title=BRST5:Adenoid_cystic_carcinoma&oldid=2434"