Compendium of Cancer Genome Aberrations

BRST5:Adenoid cystic carcinoma: Difference between revisions

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<br />
 
==Primary Author(s)*==
==Primary Author(s)*==
Jun Liao, PhD, Columbia University and Katherine Geiersbach, MD, Mayo Clinic - Rochester
 
==WHO Classification of Disease==
__TOC__
<span style="color:#0070C0">(''Instructions: This table’s content from the WHO book will be <u>autocompleted</u>.'')</span>
 
{| class="wikitable"
==Cancer Category/Type==
!Structure
 
!Disease
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
 
{| class="wikitable sortable"
|-
|-
|Book
! Finding  !! Marker
|
|-
|-
|Category
|Positive (universal) || EXAMPLE CD1
|
|-
|-
|Family
|Positive (subset) || EXAMPLE CD2
|
|-
|-
|Type
|Negative (universal) || EXAMPLE CD3
|
|-
|-
|Subtype(s)
|Negative (subset) || EXAMPLE CD4
|
|}
==WHO Essential and Desirable Genetic Diagnostic Criteria==
<span style="color:#0070C0">(''Instructions: The table will have the diagnostic criteria from the WHO book <u>autocompleted</u>; remove any <u>non</u>-genetics related criteria. If applicable, add text about other classification'' ''systems that define this entity and specify how the genetics-related criteria differ.'')</span>
{| class="wikitable"
|+
|WHO Essential Criteria (Genetics)*
|
|-
|WHO Desirable Criteria (Genetics)*
|
|-
|Other Classification
|
|}
<nowiki>*</nowiki>Note: These are only the genetic/genomic criteria. Additional diagnostic criteria can be found in the [https://tumourclassification.iarc.who.int/home <u>WHO Classification of Tumours</u>].
==Related Terminology==
<span style="color:#0070C0">(''Instructions: The table will have the related terminology from the WHO <u>autocompleted</u>.)''</span>
{| class="wikitable"
|+
|Acceptable
|
|-
|Not Recommended
|
|}
|}


==Gene Rearrangements==
==Chromosomal Rearrangements (Gene Fusions)==
<br />
 
Put your text here and/or fill in the table
 
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Driver Gene!!Fusion(s) and Common Partner Genes!!Molecular Pathogenesis!!Typical Chromosomal Alteration(s)
! Chromosomal Rearrangement !! Genes in Fusion (5’ or 3’ Segments) !! Pathogenic Derivative !! Prevalence
!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
|-
|-
|''MYB''
|EXAMPLE t(9;22)(q34;q11.2) || EXAMPLE 3'ABL1 / 5'BCR || EXAMPLE der(22) || EXAMPLE 5%
|''MYB''::''NFIB''
|Fusion transcripts most commonly join exon 8 or exon 14 of ''MYB'' with exon 9 of ''NFIB'' and result in overexpression of ''MYB''.<ref name=":2">{{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=":1">{{Cite journal|last=Brill|first=Louis B.|last2=Kanner|first2=William A.|last3=Fehr|first3=André|last4=Andrén|first4=Ywonne|last5=Moskaluk|first5=Christopher A.|last6=Löning|first6=Thomas|last7=Stenman|first7=Göran|last8=Frierson|first8=Henry F.|date=2011-09|title=Analysis of MYB expression and MYB-NFIB gene fusions in adenoid cystic carcinoma and other salivary neoplasms|url=https://pubmed.ncbi.nlm.nih.gov/21572406|journal=Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc|volume=24|issue=9|pages=1169–1176|doi=10.1038/modpathol.2011.86|issn=1530-0285|pmid=21572406}}</ref><ref name=":3">{{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=":4">{{Cite journal|last=Mitani|first=Yoshitsugu|last2=Liu|first2=Bin|last3=Rao|first3=Pulivarthi H.|last4=Borra|first4=Vishnupriya J.|last5=Zafereo|first5=Mark|last6=Weber|first6=Randal S.|last7=Kies|first7=Merrill|last8=Lozano|first8=Guillermina|last9=Futreal|first9=P. Andrew|date=2016-02-01|title=Novel MYBL1 Gene Rearrangements with Recurrent MYBL1-NFIB Fusions in Salivary Adenoid Cystic Carcinomas Lacking t(6;9) Translocations|url=https://pubmed.ncbi.nlm.nih.gov/26631609|journal=Clinical Cancer Research: An Official Journal of the American Association for Cancer Research|volume=22|issue=3|pages=725–733|doi=10.1158/1078-0432.CCR-15-2867-T|issn=1557-3265|pmc=4807116|pmid=26631609}}</ref> Fusions translocate super-enhancers in the partner gene to ''MYB''.<ref>{{Cite journal|last=Drier|first=Yotam|last2=Cotton|first2=Matthew J.|last3=Williamson|first3=Kaylyn E.|last4=Gillespie|first4=Shawn M.|last5=Ryan|first5=Russell J. H.|last6=Kluk|first6=Michael J.|last7=Carey|first7=Christopher D.|last8=Rodig|first8=Scott J.|last9=Sholl|first9=Lynette M.|date=2016-03|title=An oncogenic MYB feedback loop drives alternate cell fates in adenoid cystic carcinoma|url=https://pubmed.ncbi.nlm.nih.gov/26829750|journal=Nature Genetics|volume=48|issue=3|pages=265–272|doi=10.1038/ng.3502|issn=1546-1718|pmc=4767593|pmid=26829750}}</ref> Fusion transcripts lack ''MYB'' exon 15 including the 3' UTR, which contains target sites for microRNAs that negatively regulate ''MYB.''<ref name=":2" />
|t(6;9)(q23.3;p23)
|Common
|D
|Yes (WHO)
|Some breast cancers express more than one ''MYB''::''NFIB'' transcript or splice variant<ref name=":1" /><ref name=":3" />
|-
|-
|''MYBL1''
|EXAMPLE t(8;21)(q22;q22) || EXAMPLE 5'RUNX1 / 3'RUNXT1 || EXAMPLE der(8) || EXAMPLE 5%
|''MYBL1''::''NFIB''
|}
|Fusions most commonly join exon 8 or exon 14 of ''MYBL1'' with exon 11 of ''NFIB.''<ref name=":4" />
|t(8;9)(q13.1;p23)
==Characteristic Chromosomal Aberrations / Patterns==
|Rare
 
|D
Put your text here
|Yes (WHO)
 
|
==Genomic Gain/Loss/LOH==
|}
 
==Individual Region Genomic Gain/Loss/LOH==
Put your text here and/or fill in the table
<br />
 
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Chr #!!'''Gain, Loss, Amp, LOH'''!!'''Minimal Region Cytoband and/or Genomic Coordinates [Genome Build; Size]'''!!'''Relevant Gene(s)'''
! Chromosome Number !! Gain/Loss/Amp/LOH !! Region
!'''Diagnostic, Prognostic, and Therapeutic Significance - D, P, T'''
!'''Established Clinical Significance Per Guidelines - Yes or No (Source)'''
!'''Clinical Relevance Details/Other Notes'''
|-
|-
|6
|EXAMPLE 8 || EXAMPLE Gain || EXAMPLE chr8:0-1000000
|Amp
|6q23.3<ref name=":5">{{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>
|''MYB''
|D
|Yes (WHO)
|Documented molecular pathogenesis in rare case lacking translocations of MYB or MYBL1<ref name=":5" />
|-
|-
|12
|EXAMPLE 7 || EXAMPLE Loss || EXAMPLE chr7:0-1000000
|Loss
|}
|12q12-q14.1<ref name=":0">{{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>
|Unknown
==Gene Mutations (SNV/INDEL)==
|None
 
|No
Put your text here and/or fill in the tables
|
 
|-
|17
|Gain
|17q21-q25.1<ref name=":0" />
|Unknown
|None
|No
|
|}
==Characteristic Chromosomal or Other Global Mutational Patterns==
<br />
{| 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)
!Molecular Pathogenesis
!'''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'''
|-
|-
|
| EXAMPLE TP53 || EXAMPLE R273H || EXAMPLE Tumor Suppressor || EXAMPLE LOF || EXAMPLE 20%
|
|}
|
|
===Other Mutations===
|
|
|}
==Gene Mutations (SNV/INDEL)==
Recurrent mutations are shown in the table below. Adenoid cystic carcinoma does not share the typical mutation profile of most triple negative breast cancers and generally lacks mutations in ''TP53'', ''PIK3CA'', and ''BRCA1''.<ref name=":0" /> Progression to high-grade triple-negative breast cancer has been described, with additional sub-clonal mutations in genes including ''MYB''.<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><br />
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Gene!!'''Genetic Alteration'''!!'''Tumor Suppressor Gene, Oncogene, Other'''!!'''Prevalence -'''
! Type !! Gene/Region/Other
'''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'''
|-
|-
|''MYB''
| Concomitant Mutations || EXAMPLE IDH1 R123H
|Activating mutations
|Oncogene
|Recurrent<ref name=":0" />
|
|
|
|-
|-
|''BRAF''
| Secondary Mutations || EXAMPLE Trisomy 7
|Activating mutations
|Oncogene
|Recurrent<ref>{{Cite journal|last=Wetterskog|first=Daniel|last2=Wilkerson|first2=Paul M.|last3=Rodrigues|first3=Daniel N.|last4=Lambros|first4=Maryou B.|last5=Fritchie|first5=Karen|last6=Andersson|first6=Mattias K.|last7=Natrajan|first7=Rachael|last8=Gauthier|first8=Arnaud|last9=Di Palma|first9=Silvana|date=2013-03|title=Mutation profiling of adenoid cystic carcinomas from multiple anatomical sites identifies mutations in the RAS pathway, but no KIT mutations|url=https://pubmed.ncbi.nlm.nih.gov/23398044|journal=Histopathology|volume=62|issue=4|pages=543–550|doi=10.1111/his.12050|issn=1365-2559|pmc=4975515|pmid=23398044}}</ref>
|
|
|
|-
|-
|''NOTCH''
|Mutually Exclusive || EXAMPLE EGFR Amplification
|Activating mutations
|}
|Oncogene
 
|Rare<ref name=":6">{{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>
==Epigenomics (Methylation)==
|
 
|
|Enriched in solid-type adenoid cystic carcinomas of the breast<ref name=":6" />
|-
|''CREBBP''
|Activating mutations
|Oncogene
|Rare<ref name=":6" />
|
|
|Enriched in solid-type adenoid cystic carcinomas of the breast<ref name=":6" />
|-
|''FBXW7''
|Inactivating mutations
|Tumor Suppressor Gene
|Rare<ref name=":0" />
|
|
|
|-
|''SMARCA5''
|Inactivating mutations
|Tumor Suppressor Gene
|Rare<ref name=":0" />
|
|
|
|-
|''SF3B1''
|Activating mutations
|Other
|Rare<ref name=":0" />
|
|
|
|-
|''FGFR2''
|Activating mutations
|Oncogene
|Rare<ref name=":0" />
|
|
|
|-
|''MTOR''
|Activating mutations
|Oncogene
|Rare<ref name=":0" />
|
|
|
|}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==
Put your text here
Put your text here
==Genes and Main Pathways Involved==
==Genes and Main Pathways Involved==
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Please include references throughout the table. Do not delete the table.)''</span>
 
{| class="wikitable sortable"
Put your text here
|-
 
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
==Diagnostic Testing Methods==
|-
 
|''MYB'' or ''MYBL1''; activating fusions most common; rarely other sequence or structural alterations or amplification
Put your text here
|Transcription factor
 
|Increased cell growth and proliferation<ref>{{Cite journal|last=Andersson|first=Mattias K.|last2=Mangiapane|first2=Giovanna|last3=Nevado|first3=Paloma Tejera|last4=Tsakaneli|first4=Alexia|last5=Carlsson|first5=Therese|last6=Corda|first6=Gabriele|last7=Nieddu|first7=Valentina|last8=Abrahamian|first8=Carla|last9=Chayka|first9=Olesya|date=2020-01-30|title=ATR is a MYB regulated gene and potential therapeutic target in adenoid cystic carcinoma|url=https://pubmed.ncbi.nlm.nih.gov/32001675|journal=Oncogenesis|volume=9|issue=1|pages=5|doi=10.1038/s41389-020-0194-3|issn=2157-9024|pmc=6992744|pmid=32001675}}</ref>
==Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications)==
|-
 
|
Put your text here
|
 
|
|}
==Genetic Diagnostic Testing Methods==
Next generation sequencing for fusion detection and gene mutation profiling as applicable. Fluorescence in situ hybridization (FISH) for ''MYB'' rearrangement, typically with a "break-apart" probe design using differentially labeled 5' and 3' flanking probes to detect rearrangements of the ''MYB'' gene locus. Immunohistochemistry for MYB expression was more sensitive and specific than FISH in one study.<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>
==Familial Forms==
==Familial Forms==
Put your text here <span style="color:#0070C0">(''Instructions: Include associated hereditary conditions/syndromes that cause this entity or are caused by this entity.'') </span>
 
==Additional Information==
Put your text here
 
==Other Information==
 
Put your text here
Put your text here
==Links==
==Links==
Put a link here or anywhere appropriate in this page <span style="color:#0070C0">(''Instructions: Highlight the text to which you want to add a link in this section or elsewhere, select the "Link" icon at the top of the wiki page, and search the name of the internal page to which you want to link this text, or enter an external internet address by including the "<nowiki>http://www</nowiki>." portion.'')</span>
==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 [[Leadership|''<u>Associate Editor</u>'']] or other CCGA representative.  When pages have a major update, the new author will be acknowledged at the beginning of the page, and those who contributed previously will be acknowledged below as a prior author.


Prior Author(s):  
Put your links here


<br />
==References==
==References==
(use the "Cite" icon at the top of the page) <span style="color:#0070C0">(''Instructions: Add each reference into the text above by clicking where you want to insert the reference, selecting the “Cite” icon at the top of the wiki page, and using the “Automatic” tab option to search by PMID to select the reference to insert. If a PMID is not available, such as for a book, please use the “Cite” icon, select “Manual” and then “Basic Form”, and include the entire reference. To insert the same reference again later in the page, select the “Cite” icon and “Re-use” to find the reference; DO NOT insert the same reference twice using the “Automatic” tab as it will be treated as two separate references. The reference list in this section will be automatically generated and sorted''</span><span style="color:#0070C0">''.''</span><span style="color:#0070C0">)</span>
 
<references />
=== 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 ==
<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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